RESUMO
Introduction. Hypercalcemia is infrequent in pediatrics, of diverse etiology, and with multiorgan morbidity. Objective. Describe the etiology, biochemistry, clinical, and treatment in pediatric patients with hypercalcemia. Population and methods. Retrospective and descriptive study of a cohort of patients with hypercalcemia between 2008 and 2022. They were classified into three groups (G): hypercalcemia of iatrogenic cause (G1), parathyroid hormone (PTH) independent (G2), or PTH-dependent (G3). Results. One hundred forty-seven patients were included; 57% were male, with a median age of 3.7 years, median calcemia of 11.8 mg/dl, and mean phosphatemia of 4.9 mg/dl. Symptoms were present in 29% of patients, and 28.6% required additional treatments to those of the first line. In G1, 76 patients (51.7%) were included; in G2, 58 (39.4%), and in G3, 13 (8.8%). Median calcemia was lower in G1 vs. G2 and G3 (11.6 mg/dl, 12.6 mg/dl, and 12.3 mg/dl), and mean phosphatemia was lower in G3 vs. G1 and G2 (3.7 mg/dl, 5.3 mg/dl, and 4.9 mg/dl). Most of the patients with hypercalcemia were asymptomatic and did not require additional treatments. The percentage of symptomatic patients and the percentage requiring additional treatment were lower in G1 than in the other two groups. Conclusions. Iatrogenesis was the most frequent cause, presenting lower calcemia, while PTH-dependent causes presented the lowest phosphatemia. PTH-independent causes represented a diagnostic and therapeutic challenge due to lacking a characteristic biochemical profile.
Introducción. La hipercalcemia es infrecuente en pediatría, de etiología diversa y con morbilidad multiorgánica. Objetivo. Describir etiología, bioquímica, clínica y tratamiento en pacientes pediátricos con hipercalcemia. Población y métodos. Estudio retrospectivo y descriptivo de una cohorte de pacientes con hipercalcemia entre 2008 y 2022. Se clasificaron en tres grupos (G): hipercalcemia de causa iatrogénica (G1), paratohormona (PTH) independiente (G2) o PTH dependiente (G3). Resultados. Se incluyeron 147 pacientes; el 57 % eran varones, edad mediana de 3,7 años, calcemia mediana 11,8 mg/dl y fosfatemia media 4,9 mg/dl. El 29,9 % de los pacientes fueron sintomáticos y el 28,6 % requirió tratamientos adicionales a los de la primera línea. En G1 se incluyeron 76 pacientes (51,7 %); en G2, 58 (39,4 %), y en G3, 13 (8,8 %). La calcemia mediana fue menor en G1 vs. G2 y G3 (11,6 mg/dl, 12,6 mg/dl y 12,3 mg/dl). La fosfatemia media fue menor en G3 vs. G1 y G2 (3,7 mg/dl, 5,3 mg/dl y 4,9 mg/dl). La mayoría de los pacientes con hipercalcemia fueron asintomáticos sin requerimientos de tratamientos adicionales. El porcentaje de pacientes sintomáticos y el de requerimiento de tratamientos adicionales fue menor en G1 que en los otros dos grupos. Conclusiones. La iatrogenia fue la causa más frecuente, y se presentó con calcemias más bajas; mientras que las causas PTH dependientes presentaron las fosfatemias más bajas. Las causas PTH independientes representaron un desafío diagnóstico y terapéutico por la falta de un perfil bioquímico característico.
Assuntos
Hospitais Pediátricos , Hipercalcemia , Hormônio Paratireóideo , Centros de Atenção Terciária , Humanos , Hipercalcemia/etiologia , Hipercalcemia/diagnóstico , Hipercalcemia/terapia , Masculino , Estudos Retrospectivos , Feminino , Criança , Pré-Escolar , Hormônio Paratireóideo/sangue , Lactente , Adolescente , Estudos de Coortes , Doença Iatrogênica/epidemiologiaRESUMO
ABCD syndrome (ABnormal Calcium, Calcinosis, and Creatinine in Down syndrome) is characterized by an association of hypercalcemia, hypercalciuria, nephrocalcinosis, and impaired kidney function in patients with Down syndrome. Only 7 cases have been published worldwide, although it is believed to be underdiagnosed. This report describes 2 new patients with ABCD syndrome and compares them with the cases reported to date. Although it is a rare cause of pediatric hypercalcemia, it should be considered in children with Down syndrome once other more common etiologies have been ruled out. Once this diagnosis is confirmed, the recommended treatment is to reduce dietary calcium intake and work with an interdisciplinary team to maintain an adequate calorie and protein intake.
El síndrome ABCD (por sus siglas en inglés, ABnormal Calcium, Calcinosis and Creatinine in Down syndrome) se caracteriza por la asociación de hipercalcemia, hipercalciuria, nefrocalcinosis y alteración de la función renal en pacientes con síndrome de Down. Existen solo 7 casos previamente publicados en el mundo, aunque se cree que está subdiagnosticado. En este reporte, presentamos 2 nuevos pacientes con este síndrome y realizamos una comparación con los casos informados hasta el momento. Si bien es una causa rara de hipercalcemia pediátrica, debe considerarse en niños con síndrome de Down una vez descartadas otras etiologías más frecuentes. Al confirmarse este diagnóstico, el tratamiento recomendado es la reducción de calcio en la dieta, trabajando de manera interdisciplinaria para mantener un aporte calórico proteico adecuado.
Assuntos
Síndrome de Down , Hipercalcemia , Humanos , Hipercalcemia/etiologia , Hipercalcemia/diagnóstico , Hipercalcemia/terapia , Síndrome de Down/complicações , Masculino , Feminino , Nefrocalcinose/etiologia , Nefrocalcinose/complicações , Nefrocalcinose/diagnóstico , Pré-Escolar , Criança , Calcinose/complicações , Calcinose/etiologia , Calcinose/diagnóstico , Creatinina/sangueRESUMO
Introducción: describir el caso de un paciente con pancreatitis aguda secundaria a hipercalcemia por hiperparatiroidismo prImario. Esta es una causa poco frecuente de pancreatitis, asociada a morbimortalidad significativa en caso de no ser diagnosticada oportunamente Caso clínico: un hombre de 44 años, con antecedente de pancreatitis de presunto origen biliar que había requerido previamente colecistectomía, consultó por dolor abdominal y náuseas. Los estudios complementarios fueron compatibles con un nuevo episodio de pancreatitis aguda. Presentaba hipercalcemia y hormona paratiroidea (PTH) elevada, configurando hiperparatiroidismo primario. La gammagrafía informó hallazgos compatibles con adenoma paratiroideo. Se inició tratamiento con reanimación hídrica y analgesia con adecuada disminución de calcio sérico y resolución de dolor abdominal. Después de la paratiroidectomía se logró normalizar los niveles de calcio y PTH. Discusión: la pancreatitis aguda es una condición potencialmente fatal, por lo que la sospecha de causas poco frecuentes como la hipercalcemia debe tenerse en cuenta. El tratamiento de la hipercalcemia por adenoma paratiroideo se basa en reanimación hídrica adecuada y manejo quirúrgico del adenoma, con el fin de evitar recurrencia de pancreatitis y mortalidad. (AU)
Introduction: we describe the case of a patient with acute pancreatitis secondary to hypercalcemia due to primary hyperparathyroidism. This is a rare cause of pancreatitis associated with significant morbidity and mortality if not diagnosed in time. Clinical case: a 44-year-old man with a history of pancreatitis of presumed biliary origin, which had previously required cholecystectomy, consulted for abdominal pain and nausea. The laboratory findings were compatible with a new episode of acute pancreatitis. He presented hypercalcemia and an elevated parathyroid hormone (PTH), configuring primary hyperparathyroidism. Scintigraphy was performed, yielding findings compatible with parathyroid adenoma. Treatment with fluid resuscitation and analgesia was started, resulting in an adequate decrease in serum calcium and resolution of abdominal pain. After parathyroidectomy, calcium and PTH levels were normalized. Discussion: acute pancreatitis is a potentially fatal condition; therefore the suspicion of rare causes, such as hypercalcemia, should be considered. The treatment of hypercalcemia due to parathyroid adenoma is based on adequate fluid resuscitation and surgical management of the adenoma, to avoid recurrence of pancreatitis and death. (AU)
Assuntos
Humanos , Masculino , Adulto , Pancreatite/etiologia , Neoplasias das Paratireoides/diagnóstico por imagem , Hiperparatireoidismo Primário/diagnóstico por imagem , Hipercalcemia/etiologia , Pancreatite/prevenção & controle , Neoplasias das Paratireoides/cirurgia , Neoplasias das Paratireoides/complicações , Cintilografia , Tecnécio Tc 99m Sestamibi , Hiperparatireoidismo Primário/complicações , Hipercalcemia/sangue , Hipercalcemia/terapiaRESUMO
Calcium is the most abundant extracellular cation in the body, and it is responsible for structural and enzymatic functions. Calcium homeostasis is regulated by 3 factors: calcitonin, vitamin D, and parathyroid hormone (PTH). Hypercalcemia is defined by a serum calcium concentration >10.5 mg/dL, and it is classified into mild, moderate, and severe, depending on calcium values. Most cases are caused by primary hyperparathyroidism and malignancies. Various mechanisms are involved in the pathophysiology of hypercalcemia, such as excessive PTH production, production of parathyroid hormone-related protein (PTHrp), bone metastasis, extrarenal activation of vitamin D, and ectopic PTH secretion. The initial approach is similar in most cases, but a definitive treatment depends on etiology, that is why etiological investigation is mandatory in all cases. The majority of patients are asymptomatic and diagnosed during routine exams; only a small percentage of patients present with severe manifestations which can affect neurological, muscular, gastrointestinal, renal, and cardiovascular systems. Clinical manifestations are related to calcium levels, with higher values leading to more pronounced symptoms. Critically ill patients should receive treatment as soon as diagnosis is made. Initial treatment involves vigorous intravenous hydration and drugs to reduce bone resorption such as bisphosphonates and, more recently, denosumab, in refractory cases; also, corticosteroids and calcitonin can be used in specific cases. This review aims to provide a clinical update on current concepts of the pathophysiology of calcium homeostasis, epidemiology, screening, clinical presentation, diagnosis, and management of hypercalcemia.
Assuntos
Cálcio/metabolismo , Técnicas de Diagnóstico do Sistema Digestório , Gerenciamento Clínico , Diagnóstico Precoce , Hipercalcemia/diagnóstico , Humanos , Hipercalcemia/sangue , Hipercalcemia/terapiaRESUMO
Abstract Fortification of food products with vitamin D was central to the eradication of rickets in the early parts of the 20th century in the United States. In the subsequent almost 100 years since, accumulating evidence has linked vitamin D deficiency to a variety of outcomes, and this has paralleled greater public interest and awareness of the health benefits of vitamin D. Supplements containing vitamin D are now widely available in both industrialized and developing countries, and many are in the form of unregulated formulations sold to the public with little guidance for safe administration. Together, this has contributed to a transition whereby a dramatic global increase in cases of vitamin D toxicity has been reported. Clinicians are now faced with the challenge of managing this condition that can present on a spectrum from asymptomatic to acute life-threatening complications. This article considers contemporary data on vitamin D toxicity, and diagnostic and management strategies relevant to clinical practice.
Resumo A suplementação de produtos alimentares com vitamina D foi fundamental para a erradicação do raquitismo no início do século XX nos Estados Unidos. Nos quase 100 anos subsequentes, o acúmulo de evidências vinculou a deficiência de vitamina D a uma variedade de desfechos, e isso tem levantado grande interesse público e conscientização dos benefícios à saúde da vitamina D. Os suplementos que contêm vitamina D estão agora amplamente disponíveis tanto nos países desenvolvidos quanto naqueles em desenvolvimento, e muitos estão na forma de formulações não regulamentadas, vendidas ao público com poucas orientações para uma administração segura. Juntos, isso contribuiu para uma transição na qual um aumento global dramático nos casos de toxicidade da vitamina D tem sido relatado. Médicos agora enfrentam o desafio de tratar essa condição que pode apresentar um espectro de complicações assintomáticas a agudas, com risco de vida. Este artigo considera dados atualizados sobre a toxicidade da vitamina D e estratégias de diagnóstico e manejo relevantes para a prática clínica.
Assuntos
Humanos , Masculino , Idoso , Raquitismo/prevenção & controle , Vitamina D/toxicidade , Suplementos Nutricionais/toxicidade , Injúria Renal Aguda/induzido quimicamente , Raquitismo/epidemiologia , Deficiência de Vitamina D/complicações , Deficiência de Vitamina D/tratamento farmacológico , Resultado do Tratamento , Suplementos Nutricionais/provisão & distribuição , Suspensão de Tratamento , Injúria Renal Aguda/terapia , Hipercalcemia/complicações , Hipercalcemia/diagnóstico , Hipercalcemia/induzido quimicamente , Hipercalcemia/terapiaRESUMO
Fortification of food products with vitamin D was central to the eradication of rickets in the early parts of the 20th century in the United States. In the subsequent almost 100 years since, accumulating evidence has linked vitamin D deficiency to a variety of outcomes, and this has paralleled greater public interest and awareness of the health benefits of vitamin D. Supplements containing vitamin D are now widely available in both industrialized and developing countries, and many are in the form of unregulated formulations sold to the public with little guidance for safe administration. Together, this has contributed to a transition whereby a dramatic global increase in cases of vitamin D toxicity has been reported. Clinicians are now faced with the challenge of managing this condition that can present on a spectrum from asymptomatic to acute life-threatening complications. This article considers contemporary data on vitamin D toxicity, and diagnostic and management strategies relevant to clinical practice.
Assuntos
Injúria Renal Aguda/induzido quimicamente , Suplementos Nutricionais/toxicidade , Raquitismo/prevenção & controle , Vitamina D/toxicidade , Injúria Renal Aguda/terapia , Idoso , Suplementos Nutricionais/provisão & distribuição , Humanos , Hipercalcemia/induzido quimicamente , Hipercalcemia/complicações , Hipercalcemia/diagnóstico , Hipercalcemia/terapia , Masculino , Raquitismo/epidemiologia , Raquitismo/etiologia , Resultado do Tratamento , Vitamina D/efeitos adversos , Vitamina D/uso terapêutico , Deficiência de Vitamina D/complicações , Deficiência de Vitamina D/tratamento farmacológico , Suspensão de TratamentoRESUMO
Immobilization and prolonged bed rest are harmful to the skeleton, which suffers increased resorption, and contribute to reducing survival rates among patients in critical care units. We report a patient who presented hypercalcemia 10 days after continuous venovenous hemofiltration has ended. Investigative tests showed an increase of serum C-terminal telopeptide of type I collagen (CTx), with suppressed parathormone and calcitriol. Denosumab was administered with a significant response, decreasing ionized calcium and CTx levels. The calcium infusion rate during dialysis procedures, used for citrate anticoagulation compensation, has progressively decreased, suggesting that endogenous calcium was taking part in the citrate chelation. In this report, we highlight the challenges in early diagnosis of immobilization-induced hypercalcemia among patients who are on continuous renal replacement therapy undergoing citrate anticoagulation.
Assuntos
Anticoagulantes/administração & dosagem , Ácido Cítrico/administração & dosagem , Terapia de Substituição Renal Contínua , Denosumab/administração & dosagem , Hipercalcemia/terapia , Restrição Física/efeitos adversos , Calcitriol/sangue , Colágeno Tipo I/sangue , Estado Terminal , Humanos , Hipercalcemia/sangue , Hipercalcemia/etiologia , Masculino , Pessoa de Meia-Idade , Hormônio Paratireóideo/sangue , Peptídeos/sangueRESUMO
Primary hyperparathyroidism (PHPT), the most common cause of hypercalcemia, is most often identified in postmenopausal women with hypercalcemia and parathyroid hormone (PTH) levels that are either frankly elevated or inappropriately normal. The clinical presentation of PHPT includes three phenotypes: target organ involvement of the renal and skeletal systems; mild asymptomatic hypercalcemia; and more recently, high PTH levels in the context of persistently normal albumin-corrected and ionized serum calcium values. The factors that determine which of these three clinical presentations is more likely to predominate in a given country include the extent to which biochemical screening is employed, the prevalence of vitamin D deficiency, and whether a medical center or practitioner tends to routinely measure PTH levels in the evaluation of low bone density or frank osteoporosis. When biochemical screening is common, asymptomatic primary hyperparathyroidism is the most likely form of the disease. In countries where vitamin D deficiency is prevalent and biochemical screening is not a feature of the health care system, symptomatic disease with skeletal abnormalities is likely to predominate. Finally, when PTH levels are part of the evaluation for low bone mass, the normocalcemic variant is seen. Guidelines for surgical removal of hyperfunctioning parathyroid tissue apply to all three clinical forms of the disease. If guidelines for surgery are not met, parathyroidectomy can also be an appropriate option if there are no medical contraindications to surgery. In settings where either the serum calcium or bone mineral density is of concern, and surgery is not an option, pharmacological approaches are available and effective. Referencing in this article the most current published articles, we review the different presentations of PHPT, with particular emphasis on recent advances in our understanding of target organ involvement and management.
Assuntos
Hiperparatireoidismo Primário , Densidade Óssea , Cálcio/sangue , Humanos , Hipercalcemia/diagnóstico , Hipercalcemia/epidemiologia , Hipercalcemia/etiologia , Hipercalcemia/terapia , Hiperparatireoidismo Primário/complicações , Hiperparatireoidismo Primário/diagnóstico , Hiperparatireoidismo Primário/epidemiologia , Hiperparatireoidismo Primário/terapia , Osteoporose/complicações , Osteoporose/diagnóstico , Osteoporose/epidemiologia , Osteoporose/terapia , Hormônio Paratireóideo/sangue , Deficiência de Vitamina D/complicações , Deficiência de Vitamina D/diagnóstico , Deficiência de Vitamina D/epidemiologia , Deficiência de Vitamina D/terapiaRESUMO
Hypercalcemia is a rare condition in childhood; the most common causes are primary hyperparathyroidism, malignancy, prolonged immobilisation, thyrotoxicosis, thiazide diuretic, supplements containing calcium, milk-alkali syndrome, vitamin D intoxication, infections and idiopathic. We present three cases of severe hypercalcemia of unusual causes in children. The first patient had high fever, poor general condition, weight loss and myalgia. Extensive preliminary investigation did not define the etiology, but a review of medical history revealed prolonged contact with pet bird and a positive serology for Chlamydia confirmed the diagnosis of psittacosis. The second patient had generalized lymphadenopathy and hepatosplenomegaly with fever a month ago. Paracoccidioides brasiliensis was identified in myelogram; the patient showed partial improvement with the use of co-trimoxazole, with subsequent emergence of multiple osteolytic lesions. A smear of gastric lavage was positive for Mycobacterium tuberculosis and the patient was treated with rifampicin, isoniazid, ethambutol and pyrazinamide, with improvement of clinical condition. The third patient was treated by hypercalciuria and idiopathic hypomagnesiuria with daily use of cholecalciferol; the patient had a two quilograms of weight loss in the past two months. No cause of hypercalcemia could be detected in laboratory workout. The capsules of cholecalciferol were analyzed and presented an amount of 832,000 IU of vitamin D per capsule. Acute hypercalcemia in childhood may be due to exogenous vitamin D intoxication, as well as infectious causes. The possible causal relationship between psittacosis and occurrence of hypercalcemia alert to the need for detailed investigation of the epidemiological antecedents.
Assuntos
Hipercalcemia/diagnóstico , Criança , Humanos , Hipercalcemia/etiologia , Hipercalcemia/terapia , Masculino , Índice de Gravidade de DoençaRESUMO
Abstract Hypercalcemia is a rare condition in childhood; the most common causes are primary hyperparathyroidism, malignancy, prolonged immobilisation, thyrotoxicosis, thiazide diuretic, supplements containing calcium, milk-alkali syndrome, vitamin D intoxication, infections and idiopathic. We present three cases of severe hypercalcemia of unusual causes in children. The first patient had high fever, poor general condition, weight loss and myalgia. Extensive preliminary investigation did not define the etiology, but a review of medical history revealed prolonged contact with pet bird and a positive serology for Chlamydia confirmed the diagnosis of psittacosis. The second patient had generalized lymphadenopathy and hepatosplenomegaly with fever a month ago. Paracoccidioides brasiliensis was identified in myelogram; the patient showed partial improvement with the use of co-trimoxazole, with subsequent emergence of multiple osteolytic lesions. A smear of gastric lavage was positive for Mycobacterium tuberculosis and the patient was treated with rifampicin, isoniazid, ethambutol and pyrazinamide, with improvement of clinical condition. The third patient was treated by hypercalciuria and idiopathic hypomagnesiuria with daily use of cholecalciferol; the patient had a two quilograms of weight loss in the past two months. No cause of hypercalcemia could be detected in laboratory workout. The capsules of cholecalciferol were analyzed and presented an amount of 832,000 IU of vitamin D per capsule. Acute hypercalcemia in childhood may be due to exogenous vitamin D intoxication, as well as infectious causes. The possible causal relationship between psittacosis and occurrence of hypercalcemia alert to the need for detailed investigation of the epidemiological antecedents.
Resumo A hipercalcemia é uma condição pouco comum na infância; dentre as causas mais comuns destacam-se hiperparatireoidismo primário, neoplasia, imobilização prolongada, tireotoxicose, diurético tiazídico, suplementos contendo cálcio, síndrome leite-álcali, intoxicação por vitamina D, infecções e causa idiopática. Apresentamos três casos de hipercalcemia grave por causas incomuns em crianças. O primeiro paciente tinha história de febre alta acompanhada de queda do estado geral, emagrecimento e mialgia. Extensa investigação preliminar não definiu a etiologia, porém uma revisão da história clínica revelou contato prolongado com ave de estimação e uma sorologia positiva para clamídia confirmou o diagnóstico de psitacose. O segundo paciente apresentava adenomegalia generalizada e hepatoesplenomegalia acompanhadas de febre por um mês, tendo sido identificado Paracoccidioides brasiliensis no mielograma; o paciente apresentou melhora parcial com uso de sulfametoxazol+trimetoprima, com posterior surgimento de múltiplas lesões osteolíticas. Uma baciloscopia do lavado gástrico foi positiva para Mycobacterium tuberculosis, tratado com rifampicina, isoniazida, pirazinamida e etambutol, com boa evolução. O terceiro paciente já era acompanhado por hipercalciúria e hipomagnesiúria idiopáticas e fazia uso diário de colecalciferol; perdeu dois quilogramas nos últimos dois meses. Nenhuma causa de hipercalcemia pôde ser detectada nos exames laboratoriais. As cápsulas de colecalciferol foram analisadas e encontrou-se uma quantidade de 832.000 UI de vitamina D. A hipercalcemia aguda na infância pode ser decorrente de intoxicação exógena por vitamina D, bem como de causas infecciosas. A possível relação causal entre psitacose e ocorrência da hipercalcemia alerta para a necessidade de investigação detalhada dos antecedentes epidemiológicos.
Assuntos
Humanos , Masculino , Criança , Hipercalcemia/diagnóstico , Índice de Gravidade de Doença , Hipercalcemia/etiologia , Hipercalcemia/terapiaRESUMO
OBJECTIVE: Small cell carcinoma of the ovary-hypercalcemic type (SCCOHT) is a rare disease with a poor prognosis. SCCOHT has recently been shown to be associated with SMARCA4 gene mutations as well as molecular and genetic similarities to malignant rhabdoid tumors (MRT). The objective of our study is to describe the clinical characteristics, treatment modalities and outcomes of 47 patients with SCCOHT. METHODS: We performed a retrospective analysis of 47 patients with SCCOHT evaluated at MD Anderson Cancer Center between 1990 and 2014. Medical records were reviewed for demographic information, pathologic findings, treatment regimens and outcomes. RESULTS: Median age at diagnosis was 30 years (range 5-46). All patients underwent surgery with unilateral salpingo-oophorectomy (USO) performed in 26 patients (55%), and hysterectomy with bilateral salpingooophorectomy (BSO) in 21 patients (45%). Sixteen patients (34.0%) had stage I disease, six (12.8%) stage II, 23 (48.9%) stage III, and two patients (4.3%) had stage IV disease. Information on adjuvant treatment was available for 43 patients: 83.3% received chemotherapy alone, 9.5% chemotherapy followed by radiotherapy, 2.4% chemoradiation, and 4.8% did not receive any adjuvant therapy. Median follow-up was 13.2 months (range, 0.1 to 210.7) with a median overall survival of 14.9 months. Multi-agent chemotherapy and radiotherapy were associated with a better prognosis. CONCLUSION: Our findings suggest that aggressive therapy including multi-agent chemotherapy and possibly radiotherapy may extend survival. Further study is needed to improve outcomes in these patients including the adoption of systemic therapies used in MRT as well as the development of novel agents targeting specific mutations.
Assuntos
Carcinoma de Células Pequenas/patologia , Carcinoma de Células Pequenas/terapia , Hipercalcemia/patologia , Hipercalcemia/terapia , Neoplasias Ovarianas/patologia , Neoplasias Ovarianas/terapia , Adolescente , Adulto , Carcinoma de Células Pequenas/sangue , Criança , Pré-Escolar , Feminino , Humanos , Hipercalcemia/sangue , Pessoa de Meia-Idade , Neoplasias Ovarianas/sangue , Estudos Retrospectivos , Adulto JovemRESUMO
RESUMO A hipercalcemia é um distúrbio metabólico raro em pediatria, potencialmente fatal, apresentando um vasto diagnóstico diferencial, incluindo neoplasias. Relatamos aqui o caso de uma criança de 3 anos, previamente saudável, admitida no serviço de urgência por fadiga, hiporreatividade, febre e claudicação da marcha com 5 dias de evolução, de agravamento progressivo. À observação, apresentava-se inconsciente (escore de coma Glasgow: 8). Laboratorialmente, apresentava hipercalcemia grave (cálcio total 21,39mg/dL, ionizado 2,93mmol/L) e anemia microcítica. Iniciou hiper-hidratação e foi transferido para a unidade de cuidados intensivos pediátricos. Instituiu-se hemodiafiltração venovenosa contínua com soluto livre de cálcio, ocorrendo a progressiva normalização da calcemia, com melhoria do estado de consciência. Administrou-se zolendronato. Excluíram-se causas metabólicas, infecciosas e intoxicação. O mielograma permitiu o diagnóstico de leucemia linfoblástica aguda. A hipercalcemia associada à malignidade em pediatria é rara, ocorrendo como forma de apresentação da neoplasia ou na recorrência desta. Em situações com risco de vida iminente, deve se considerar hemodiafiltração venovenosa contínua.
ABSTRACT Hypercalcemia is a rare metabolic disorder in children and is potentially fatal. It has a wide differential diagnosis, including cancer. Here, we report the case of a previously healthy 3-year-old who was admitted to the emergency room with fatigue, hyporeactivity, fever and limping gait that had evolved over 5 days and that was progressively worsening. On examination the patient was unconscious (Glasgow coma score: 8). Laboratory tests indicated severe hypercalcemia (total calcium 21.39mg/dL, ionized calcium 2.93mmol/L) and microcytic anemia. Hyperhydration was initiated, and the child was transferred to the pediatric intensive care unit. Continuous venovenous hemodiafiltration with calcium-free solution was instituted, which brought progressive normalization of serum calcium and an improved state of consciousness. Zoledronate was administered, and metabolic and infectious causes and poisoning were excluded. The bone marrow smear revealed a diagnosis of acute lymphoblastic leukemia. Hypercalcemia associated with malignancy in children is rare and occurs as a form of cancer presentation or recurrence. Continuous venovenous hemodiafiltration should be considered in situations where there is imminent risk to life.
Assuntos
Humanos , Masculino , Pré-Escolar , Hemodiafiltração/métodos , Síndrome de Williams/etiologia , Leucemia-Linfoma Linfoblástico de Células Precursoras/diagnóstico , Difosfonatos/uso terapêutico , Conservadores da Densidade Óssea/uso terapêutico , Leucemia-Linfoma Linfoblástico de Células Precursoras/complicações , Ácido Zoledrônico , Hipercalcemia/terapia , Imidazóis/uso terapêuticoRESUMO
Hypercalcemia is a rare metabolic disorder in children and is potentially fatal. It has a wide differential diagnosis, including cancer. Here, we report the case of a previously healthy 3-year-old who was admitted to the emergency room with fatigue, hyporeactivity, fever and limping gait that had evolved over 5 days and that was progressively worsening. On examination the patient was unconscious (Glasgow coma score: 8). Laboratory tests indicated severe hypercalcemia (total calcium 21.39mg/dL, ionized calcium 2.93mmol/L) and microcytic anemia. Hyperhydration was initiated, and the child was transferred to the pediatric intensive care unit. Continuous venovenous hemodiafiltration with calcium-free solution was instituted, which brought progressive normalization of serum calcium and an improved state of consciousness. Zoledronate was administered, and metabolic and infectious causes and poisoning were excluded. The bone marrow smear revealed a diagnosis of acute lymphoblastic leukemia. Hypercalcemia associated with malignancy in children is rare and occurs as a form of cancer presentation or recurrence. Continuous venovenous hemodiafiltration should be considered in situations where there is imminent risk to life.
Assuntos
Hemodiafiltração/métodos , Hipercalcemia/etiologia , Leucemia-Linfoma Linfoblástico de Células Precursoras/diagnóstico , Conservadores da Densidade Óssea/uso terapêutico , Pré-Escolar , Difosfonatos/uso terapêutico , Humanos , Hipercalcemia/terapia , Imidazóis/uso terapêutico , Masculino , Leucemia-Linfoma Linfoblástico de Células Precursoras/complicações , Ácido ZoledrônicoRESUMO
BACKGROUND: Seminomas have been rarely associated with malignant hypercalcemia. The responsible mechanism of hypercalcemia in this setting has been described to be secondary to 1,25-dihydroxyvitamin D secretion. The relationship with PTHrP has not been determined or studied.The aim of this study is to describe and discuss the case and the pathophysiological mechanisms involved in a malignant hypercalcemia mediated by 1,25-dihydroxyvitamin D and PTHrP cosecretion in a patient with seminoma. CASE PRESENTATION: A 35-year-old man was consulted for assessment and management of severe hypercalcemia related to an abdominal mass. Nausea, polyuria, polydipsia, lethargy and confusion led him to the emergency department. An abdominal and pelvic enhanced CT confirmed a calcified pelvic mass, along with multiple retroperitoneal lymphadenopathy. Chest x-ray revealed "cannon ball" pulmonary metastases. The histopathology result was consistent with a seminoma. Serum calcium was 14.7 mg/dl, PTH was undetectable, 25-dihydroxyvitamin D was within normal values and PTHrP and 1,25-dihydroxyvitamin were elevated (35.0 pg/ml, and 212 pg/ml, respectively). After the first cycle of chemotherapy with bleomycin, etoposide and cisplatin, normocalcemia was restored. Both PTHrP and 1,25-dihydroxyvitamin D, dropped dramatically to 9.0 pg/ml and 8.0 pg/ml, respectively. CONCLUSION: The association of seminoma and malignant hypercalcemia is extremely rare. We describe a case of a patient with a seminoma and malignant hypercalcemia related to paraneoplastic cosecretion of 1,25-dihydroxyvitamin D and PTHrP. After successful chemotherapy, calcium, PTHrP and 1,25-Dihydroxyvitamin D returned to normal values.
Assuntos
Hipercalcemia/etiologia , Neoplasias Pulmonares/etiologia , Síndromes Paraneoplásicas/etiologia , Proteína Relacionada ao Hormônio Paratireóideo/efeitos adversos , Seminoma/complicações , Neoplasias Testiculares/complicações , Vitamina D/análogos & derivados , Adulto , Humanos , Hipercalcemia/sangue , Hipercalcemia/patologia , Hipercalcemia/terapia , Neoplasias Pulmonares/sangue , Neoplasias Pulmonares/secundário , Neoplasias Pulmonares/terapia , Masculino , Síndromes Paraneoplásicas/sangue , Síndromes Paraneoplásicas/patologia , Síndromes Paraneoplásicas/terapia , Hormônio Paratireóideo/sangue , Proteína Relacionada ao Hormônio Paratireóideo/sangue , Prognóstico , Seminoma/sangue , Seminoma/patologia , Neoplasias Testiculares/sangue , Neoplasias Testiculares/patologia , Vitamina D/efeitos adversos , Vitamina D/sangueRESUMO
CONTEXT: Hypercalcemia in ambulatory patients is occasionally caused by vitamin D toxicity. OBJECTIVE: We report nine patients presenting to Columbia University Medical Center with hypercalcemia due to a supplement from the Dominican Republic containing massive amounts of vitamin D. METHODS: Case histories and laboratory evaluation (calcium, PTH, vitamin D metabolites) are discussed in the context of other published cases of vitamin D toxicity. The supplement was analyzed by HPLC to quantitate vitamin D and A content. RESULTS: Nine patients presented with hypercalcemia (range, 10.8-17.2 mg/dl; normal, 8.4-9.8 mg/dl), suppressed PTH (range, <3 to 11 pg/ml), and elevated 25-hydroxyvitamin D (range, 94-525 ng/ml; normal, 30-80 ng/ml) levels. All reported recently taking an over-the-counter vitamin supplement called Soladek readily available in the Dominican Republic and in Upper Manhattan. Although serum calcium values before the ingestion of Soladek were not elevated (baseline serum calcium range, 8.7-9.2 mg/dl), most had a disorder that can be associated with hypercalcemia [squamous cell cancer (n = 1), Pneumocystis or mycobacterial infection (n = 3), lymphoma (n = 1), granulomatous disease (n = 1), hyperthyroidism (n = 2)]. According to the manufacturer's label, each 5-ml vial of Soladek contains vitamin D (600,000 IU), vitamin A (120,000 IU), and vitamin E (5 mg). Laboratory analysis by HPLC revealed that the supplement actually contained vitamin D(3) (864,000 IU) and vitamin A (predominantly retinyl palmitate 123,500 IU) per vial. CONCLUSION: Although hypercalcemia due to exogenous use of vitamin D is unusual, it is important to consider it in the differential diagnosis, particularly among individuals with access to Soladek.
Assuntos
Hipercalcemia/induzido quimicamente , Medicamentos sem Prescrição/efeitos adversos , Vitamina D/efeitos adversos , Vitaminas/efeitos adversos , Adulto , Idoso de 80 Anos ou mais , Cálcio/sangue , Carcinoma de Células Escamosas/complicações , Suplementos Nutricionais , República Dominicana , Feminino , Hidratação , Infecções por HIV/complicações , Humanos , Hipercalcemia/terapia , Masculino , Pessoa de Meia-Idade , Infecções por Mycobacterium/complicações , Cidade de Nova Iorque , Insuficiência Renal/complicações , Sarcoidose/complicações , Neoplasias do Colo do Útero/complicações , Vitamina D/análise , Vitaminas/análiseRESUMO
Hypercalcemia is an infrecuent complication in pediatric oncology, with an incidence between 0,5 and 3 percent. It can occur at diagnosis, during the disease course or at relapse, and it is resolved by treating the underlying pathology, requiring in some cases the use of specific therapy such as calcitonin and biphosphonates. This article presents 3 cases of children with cancer and hypercalcemia during their illness, analyzing its clinical presentation, pathophysiology and treatment.
La hipercalcemia es una complicación infrecuente en niños con cáncer, con una incidencia que oscila entre 0,5 y 3 por ciento. Se puede presentar al diagnóstico, durante el tratamiento o en la recaída de una neoplasia, se resuelve al tratar la enfermedad de base, pudiendo además, requerir el uso de terapia específica como calcitonina y bifosfonatos. En el presente artículo se revisan 3 casos clínicos de niños con cáncer que presentaron hipercalcemia en algún momento de su enfermedad, se discute su forma de presentación, fisiopatología y manejo.