RESUMO
INTRODUCTION: These guidelines aim to provide evidence-based recommendations for the supplementation of Vitamin D in maintaining bone health. An unmet need persists in Latin American regarding the availability of clinical and real-world data for rationalizing the use of vitamin D supplementation. The objective of these guidelines is to establish clear and practical recommendations for healthcare practitioners from Latin American countries to address Vitamin D insufficiency in clinical practice. METHODS: The guidelines were developed according to the GRADE-ADOLOPMENT methodology for the adaptation or adoption of CPGs or evidence-based recommendations. A search for high quality CPGs was complemented through a comprehensive review of recent literature, including randomized controlled trials, observational studies, and systematic reviews evaluating the effects of Vitamin D supplementation on bone health. The evidence to decision framework proposed by the GRADE Working Group was implemented by a panel of experts in endocrinology, bone health, and clinical research. RESULTS: The guidelines recommend Vitamin D supplementation for individuals aged 18 and above, considering various populations, including healthy adults, individuals with osteopenia, osteoporosis patients, and institutionalized older adults. These recommendations offer dosing regimens depending on an individualized treatment plan, and monitoring intervals of serum 25-hydroxyvitamin D levels and adjustments based on individual results. DISCUSSION: The guidelines highlight the role of Vitamin D in bone health and propose a standardized approach for healthcare practitioners to address Vitamin D insufficiency across Latin America. The panel underscored the necessity for generating local data and stressed the importance of considering regional geography, social dynamics, and cultural specificities when implementing these guidelines.
Assuntos
Suplementos Nutricionais , Osteoporose , Deficiência de Vitamina D , Vitamina D , Humanos , Vitamina D/uso terapêutico , Vitamina D/administração & dosagem , América Latina , Deficiência de Vitamina D/tratamento farmacológico , Deficiência de Vitamina D/prevenção & controle , Osteoporose/tratamento farmacológico , Osteoporose/prevenção & controle , Adulto , Idoso , Feminino , MasculinoRESUMO
INTRODUCTION: X-linked hypophosphatemia is an orphan disease of genetic origin and multisystem involvement. It is characterized by a mutation of the PHEX gene which results in excess FGF23 production, with abnormal renal and intestinal phosphorus metabolism, hypophosphatemia and osteomalacia secondary to chronic renal excretion of phosphate. Clinical manifestations include hypophosphatemic rickets leading to growth abnormalities and osteomalacia, myopathy, bone pain and dental abscesses. The transition of these patients to adult life continues to pose challenges to health systems, medical practitioners, patients and families. For this reason, the aim of this consensus is to provide a set of recommendations to facilitate this process and ensure adequate management and follow-up, as well as the quality of life for patients with X-linked hypophosphatemia as they transition to adult life. MATERIALS AND METHODS: Eight Latin American experts on the subject participated in the consensus and two of them were appointed as coordinators. The consensus work was done in accordance with the nominal group technique in 6 phases: (1) question standardization, (2) definition of the maximum number of choices, (3) production of individual solutions or answers, (4) individual question review, (5) analysis and synthesis of the information and (6) synchronic meetings for clarification and voting. An agreement was determined to exist with 80% votes in favor in three voting cycles. RESULTS AND DISCUSSION: Transition to adult life in patients with hypophosphatemia is a complex process that requires a comprehensive approach, taking into consideration medical interventions and associated care, but also the psychosocial components of adult life and the participation of multiple stakeholders to ensure a successful process. The consensus proposes a total of 33 recommendations based on the evidence and the knowledge and experience of the experts. The goal of the recommendations is to optimize the management of these patients during their transition to adulthood, bearing in mind the need for multidisciplinary management, as well as the most relevant medical and psychosocial factors in the region.
Assuntos
Raquitismo Hipofosfatêmico Familiar , Hipofosfatemia , Osteomalacia , Adulto , Humanos , Raquitismo Hipofosfatêmico Familiar/genética , Osteomalacia/genética , Osteomalacia/metabolismo , Consenso , Qualidade de Vida , Hipofosfatemia/genética , Hipofosfatemia/metabolismo , Fatores de Crescimento de Fibroblastos/genéticaRESUMO
Vitamin D hydroxylation-deficient rickets type 1A is an autosomal recessive disorder caused by pathogenic variants in CYP27B1 gene, which encodes for 1α-hydroxylase, the enzyme responsible for the conversion of 25-OH vitamin D into its active form 1,25(OH)2 vitamin D. We report the case of a 3-year-old female Mexican patient with growth retardation and progressive bone deformity, whose laboratory studies showed 25-OH vitamin D deficiency, a normal serum calcium and an elevated intact parathyroid hormone level that remained high despite calcitriol, cholecalciferol, and calcium supplementation. 99mTc sestamibi gammagram showed findings suggestive of parathyroid hyperplasia. Bone histomorphometry showed an image consistent with hyperparathyroidism without findings of osteomalacia, so normocalcemic primary hyperparathyroidism was suspected and a subtotal parathyroidectomy was performed, with the patient developing postoperative hypoparathyroidism. When she arrived at our clinic at age 18 years, she showed calcium- and calcitriol-dependent hypocalcemia, with secondary hyperparathyroidism and low levels of 1,25(OH)2 vitamin D in the absence of a 25-OH vitamin D deficiency, reflecting a defect in 1α-hydroxylation. Molecular testing revealed compound heterozygous variants in CYP27B1 gene. This is the first reported case of an inherited disorder of vitamin D metabolism that was diagnosed and surgically treated as primary hyperparathyroidism.
RESUMO
BACKGROUND: Hypercalcemia is highly prevalent in kidney transplant recipients with hyperparathyroidism. However, its long-term impact on graft function is uncertain. METHODS: We conducted a prospective cohort study investigating adverse graft outcomes associated with persistent hypercalcemia (free calcium > 5.2 mg/dL in ≥ 80% of measures) and inappropriately elevated intact parathyroid hormone (> 30 pg/mL) in kidney transplant recipients. Asymptomatic mild hypercalcemia was monitored unless complications developed. RESULTS: We included 385 kidney transplant recipients. During a 4-year (range 1-9) median follow-up time, 62% of kidney transplant recipients presented persistent hypercalcemia. Compared to kidney transplant recipients without hypercalcemia, there were no significant differences in graft dysfunction (10% vs. 12%, p = 0.61), symptomatic urolithiasis (5% vs. 3%, p = 0.43), biopsy-proven calcium deposits (6% vs. 5%, p = 1.0), fractures (6% vs. 4%, p = 0.64), and a composite outcome of urolithiasis, calcium deposits, fractures, and parathyroidectomy indication (16% vs. 13%, p = 0.55). In a subset of 76 kidney transplant recipients, subjects with persistent hypercalcemia had higher urinary calcium (median 84 [43-170] vs. 38 [24-64] mg/day, p = 0.03) and intact fibroblast growth factor 23 (median 36 [24-54] vs. 27 [19-40] pg/mL, p = 0.04), and lower 25-hydroxyvitamin D levels (11.3 ± 1.2 vs. 16.3 ± 1.4 ng/mL, p < 0.001). In multivariate analysis, pretransplant intact parathyroid hormone < 300 pg/mL was associated with a reduced risk of post-transplant hypercalcemia (OR 0.51, 95% CI 0.32-0.80). CONCLUSIONS: Long-term persistent mild hypercalcemia (tertiary hyperparathyroidism) was frequent in kidney transplant recipients in our series. This condition presented with lower phosphate and 25-hydroxyvitamin D, and higher urinary calcium and intact fibroblast growth factor 23 levels compared to kidney transplant recipients without hypercalcemia, resembling a mild form of primary hyperparathyroidism. Despite these metabolic derangements, the risk of adverse graft outcomes was low.
RESUMO
Diastrophic dysplasia (DTD) is caused by biallelic pathogenic variants in the SLC26A2 gene. We report the case of a 49-year-old female with DTD and esophageal stenosis. This broadens the phenotypic spectrum in adult patients with DTD and raises awareness of extra-skeletal manifestations that could develop in later stages of life.
RESUMO
Severe insulin resistance can be caused by rare genetic defects in the insulin receptor known as insulin receptoropathies. These genetic defects cause a wide spectrum of clinical manifestations ranging from mild syndromes to lethal disorders. Among those is the HAIR-AN an extreme subtype of polycystic ovary syndrome (PCOS). We present a case of a 29-year-old woman with amenorrhea, severe insulin resistance, hirsutism, and acanthosis nigricans who also developed endometrial cancer. She was found to carry a novel heterozygous nonsense mutation insulin receptor gene (INSR). The mutation was inherited from the mother. Levels of insulin receptor and AKT were measured using Western-Blot from peripheral blood mononuclear cells and were both decreased. Thus, we conclude that the identified mutation in the insulin receptor gene and lead to decreased activity of the downstream signaling of the insulin pathway.
RESUMO
PURPOSE: Free calcium is the gold standard for diagnosis of calcium disorders, although calcium assessment is routinely performed by albumin-adjusted calcium. Our objective was to develop a novel-specific correction equation for free calcium employing serum total calcium and other analytes. METHODS: Retrospective single-center cohort study. A new equation for free calcium assessment was formulated from data of hospitalized patients (n = 3481, measurements = 7157) and tested in a validation cohort (n = 3218, measurements = 6911). All measurements were performed simultaneously from the same blood draw. RESULTS: Total CO2 and phosphate, in addition to albumin, were the principal factors associated to calcium misdiagnosis. A novel laboratory-specific prediction equation was developed: free calcium (mmol/L) = 0.541 + (total calcium [mmol/L] *0.441) - (serum albumin [g/L] *0.0067) - (serum phosphate [mmol/L] *0.0425) - (CO2 [mmol/L] *0.003). This new equation substantially improved adjusted R2 to 0.67 (95% CI 0.78-0.82, p < 0.001; Kendall's c-tau: 0.28, p < 0.001). Bland-Altman plots of estimated free calcium and free calcium showed a mean difference of - 0.0006 mmol/L (LOA + 0.126 to - 0.124). In validation cohort, the AUC-ROC curves for hypercalcemia and hypocalcemia diagnosis deploying the new equation were 0.88 (95% CI 0.86-0.89, p < 0.001) and 0.98 (95% CI 0.97-99, p < 0.001), respectively, which were superior to historical formulas for calcium. In univariate models, eGFR was associated with Ca-status misdiagnosis, yet this association disappeared when analysis was adjusted to phosphate and CO2. CONCLUSIONS: The novel equation proposed for prediction of free calcium could be useful when free calcium is not available. The conventional formulas misclassify many patients, in particular when phosphate or bicarbonate disturbances are present.
Assuntos
Cálcio , Fosfatos , Dióxido de Carbono , Estudos de Coortes , Humanos , Estudos Retrospectivos , Albumina SéricaRESUMO
Introduction. Pheochromocytomas (Pheo) and paragangliomas (PGL) are rare neuroendocrine tumors arising from chromaffin cells of the adrenal medulla and from the extra-adrenal autonomic paraganglia, respectively. Only 1-3% of head and neck PGL (HNPGL) show elevated catecholamines, and at least 30% of Pheo and PGL (PCPG) are associated with genetic syndromes caused by germline mutations in tumor suppressor genes and proto-oncogenes. Clinical Case. A 33-year-old man with a past medical history of resection of an abdominal PGL at the age of eleven underwent a CT scan after a mild traumatic brain injury revealing an incidental brain tumor. The diagnosis of a functioning PGL was made, and further testing was undertaken with a PET-CT with 68Ga-DOTATATE, SPECT-CT 131-MIBG, and genetic testing. Discussion and Conclusion. The usual clinical presentation of functioning PCPG includes paroxistic hypertension, headache, and diaphoresis, sometimes with a suggestive family history in 30-40% of cases. Only 20% of PGL are located in head and neck, of which only 1-3% will show elevated catecholamines. Metastatic disease is present in up to 50% of cases, usually associated with a hereditary germline mutation. However, different phenotypes can be observed depending on such germline mutations. Genetic testing is important in patients with PCPG since 31% will present a germline mutation. In this particular patient, an SDHB gene mutation was revealed, which can drastically influence the follow-up plan and the genetic counsel offered. A multidisciplinary approach is mandatory for every patient presenting with PCPG.SDHB gene mutation was revealed, which can drastically influence the follow-up plan and the genetic counsel offered. A multidisciplinary approach is mandatory for every patient presenting with PCPG.
RESUMO
Doege-Potter syndrome with acromegaloid facial changes is extremely rare. Uncooked cornstarch along with glucocorticoids have been used as supportive care in patients with non-islet cell tumor hypoglycemia (NICTH). Preoperative embolization of hepatic solitary fibrous tumors (SFT) with NICTH has yielded unsatisfactory results. Herein we present the case of a 61-year-old man with a 3-month history of severe frequent hypoglycemic episodes and acromegaloid facial changes. During a spontaneous hypoglycemia (26 mg/dL), laboratory values showed a hypoinsulinemic pattern with low levels of GH, IGFPB3, and an IGF2/IGF1 ratio of 8.5:1. Cross-sectional imaging revealed a large (16 × 13 × 11 cm) hepatic tumor, and cytology was consistent with SFT. A preoperative right portal embolization was performed in an effort to induce normal remnant liver hypertrophy to allow for safe tumor resection. After the procedure, uncooked starch treatment followed by prednisone was started, achieving complete remission of hypoglycemic episodes in the preoperative setting. He subsequently underwent partial hepatectomy. The histologic diagnosis was compatible with a potentially malignant SFT. The patient had an excellent outcome with complete remission of hypoglycemia, improvement of facial acromegaloid changes, and no further evidence of disease. To our knowledge, this is the first case of a patient with Doege-Potter syndrome with acromegaloid facial changes induced by a potentially malignant liver SFT, treated successfully with a multimodal approach consisting of uncooked cornstarch, low-dose prednisone, preoperative embolization, and complete surgical resection. The use of cornstarch and low-dose glucocorticoids may be an adequate treatment in advance of undergoing surgery.
RESUMO
The evaluation of first-degree family members is very important to detect additional cases of polyglandular autoimmune syndrome type 2. The genetic evaluation of human leukocyte antigen (HLA) may be useful in the study of this syndrome. This study is the first report of an HLA study of this syndrome in a Mexican family.
RESUMO
BACKGROUND: Secondary and tertiary hyperparathyroidism (SHPT and THPT), are complications of chronic kidney disease (CKD), characterized by high levels of serum parathormone, hyperphosphatemia or hypercalcemia, respectively. If diet and pharmacological therapies fail, clinical practice guidelines suggest parathyroidectomy (PTX). Some studies have described its effectiveness and safety, but these have not included Mexican population. OBJECTIVE: To describe long-term effectiveness of PTX in Mexican patients with SHPT or THPT. MATERIAL AND METHODS: Observational and retrospective study of patients treated with PTX between 1995 and 2014 in a third level hospital in Mexico City. The analyses included the follow-up of medical treatment and biochemical assessment every three months during the first year, and the last evaluation. Permutation and chi square tests were used. RESULTS: The study included 27 patients (14 women). The follow-up mean was 39 months; 61.5% had SHPT. All biochemical parameters, except magnesium, were reduced in the first year of follow-up. In the long term, SHPT was controlled in 80% using PTH under a 300 pg/mL criterion, and 90% in patients with THPT using calcium criterion. Persistent hypocalcemia was present in 11.5% of cases. CONCLUSION: Mexican patients with SHPT and THPT could be successfully treated with surgery with low risk of hypocalcemia.
INTRODUCCIÓN: el hiperparatiroidismo secundario (SHPT) y terciario (THPT) son complicaciones de la enfermedad renal crónica (ERC), caracterizadas por elevación de hormona paratiroidea, hiperfosfatemia o hipercalcemia. Si la terapia nutricional y farmacológica fallan, se sugiere la paratiroidectomía (PTX). Los estudios de cohorte que han descrito su efectividad no incluyen a la población mexicana. OBJETIVO: describir la efectividad a largo plazo de la PTX en pacientes mexicanos con SHPT y THPT. MATERIAL Y MÉTODOS: estudio observacional, retrospectivo de pacientes tratados con PTX entre 1995 y 2014 en un hospital de tercer nivel de la Ciudad de México. Se registraron la terapia médica, la evaluación bioquímica, cada tres meses durante un año, y la última evaluación registrada. Se utilizaron pruebas de permutación y de chi cuadrada. RESULTADOS: se incluyeron 27 pacientes (14 mujeres). El seguimiento promedio fue de 39 meses; 61.5% tuvieron SHPT. Los parámetros bioquímicos, salvo el magnesio, disminuyeron durante el primer año postquirúrgico. A largo plazo, el SHPT fue controlado en 80%, con el criterio de la PTH menor de 300 pg/mL, y el THPT en el 90% con el criterio de normocalcemia. La hipocalcemia permanente estuvo presente en 11.5% de los casos. CONCLUSIÓN: los pacientes mexicanos con SHPT y THPT pueden ser tratados exitosamente mediante cirugía con bajo riesgo de hipocalcemia.
Assuntos
Hiperparatireoidismo/cirurgia , Paratireoidectomia , Adulto , Distribuição de Qui-Quadrado , Feminino , Humanos , Hiperparatireoidismo/sangue , Hiperparatireoidismo/tratamento farmacológico , Hiperparatireoidismo/etiologia , Hiperparatireoidismo Secundário/sangue , Hiperparatireoidismo Secundário/tratamento farmacológico , Hiperparatireoidismo Secundário/etiologia , Hiperparatireoidismo Secundário/cirurgia , Hipocalcemia/epidemiologia , Falência Renal Crônica/complicações , Masculino , México , Hormônio Paratireóideo/administração & dosagem , Hormônio Paratireóideo/sangue , Estudos RetrospectivosRESUMO
OBJECTIVE: Pituitary adenomas can be classified as clinically functional or silent. Depending on the reviewed literature, these are the first or second place in frequency of the total pituitary adenomas. Even rarer is the presence of a functional gonadotropinoma since only very few case reports exist to date. The conversion of a clinically silent to functional pituitary adenoma is extraordinarily rare; the mechanisms that explain these phenomena are unknown or not fully understood. METHODS: We report the case of a woman who initially had a nonfunctional gonadotropinoma and in the course of her medical condition showed biochemical changes in her hormonal pituitary profile compatible with a functional gonadotropinoma. RESULTS: We considered that the patient had a functional gonadotropinoma due to the hyperestrogenemia in the context of secondary amenorrhea, resolving the hyperestrogenemia after almost complete resection of the tumor. CONCLUSION: It is necessary to point out from a clinical and/or biochemical point of view the change in functionality that a nonfunctional pituitary adenoma may have. In the case of our patient, the suspicion of this change in functionality became evident when we found an increase in the FSH/LH ratio and a progressive increase in serum estradiol concentrations when the patient had amenorrhea.
RESUMO
Background: Wolfram syndrome (WS), also known by the acronym DIDMOAD, is a rare and progresive hereditary disease of autosomal recessive inheritance which minimum ascertainment diagnostic criteria are the occurrence together of diabetes mellitus and optic atrophy before 15 years of age. Objective: To describe the clinical, biochemical and molecular profile of WS in a tertiary care hospital in Mexico. Materials and Methods: We reviewed patients records who fulfill the minimum ascertainment diagnostic criteria of WS presenting between January 1987 and May 2015 in a tertiary care hospital in Mexico. Results: Five patients fulfill the inclusion criteria (three male and two female). Diabetes mellitus was the first manifestation of the syndrome in all of them, with a mean age at diagnosis of 5.8 ± 2.71 years, while the WS diagnosis was established at a mean age of 15.8 ± 8.37 years. All the patients had optic atrophy and two of them presented with the complete DIDMOAD spectrum. We found new associations with autoimmune hepatitis and testicular cancer. Conclusions: This study shows the variability of clinical presentation of WS, as well as two new associations.
Antecedentes: El síndrome de Wolfram (SW), también conocido por el acrónimo DIDMOAD, es una enfermedad hereditaria rara y progresiva, de transmisión autosómica recesiva, cuyos criterios diagnósticos mínimos son diabetes mellitus y atrofia óptica antes de los 15 años de edad. Objetivo: Describir la presentación clínica, bioquímica y molecular del SW en un hospital de tercer nivel en México. Material y Métodos: Se revisaron los expedientes de pacientes que cumplían con criterios diagnósticos clínicos mínimos de SW atendidos entre enero de 1987 y mayo de 2015 en un hospital de tercer nivel en México. Resultados: Cinco pacientes cumplieron con los criterios de inclusión (tres hombres y dos mujeres). La diabetes mellitus fue la primera manifestación del síndrome en todos ellos, con una media de edad al diagnóstico de 5.8 ± 2.71 años, mientras que el diagnóstico del SW se estableció en promedio a los 15.8 ± 8.37 años. Todos los pacientes tenían atrofia óptica y dos presentaron el espectro DIDMOAD completo. Se describen nuevas asociaciones con hepatitis autoinmunitaria y cáncer de testículo. Conclusiones: El presente estudio muestra la variabilidad de presentación clínica del SW y dos asociaciones no descritas previamente.
Assuntos
Diabetes Mellitus/diagnóstico , Atrofia Óptica/diagnóstico , Neoplasias Testiculares/diagnóstico , Síndrome de Wolfram/diagnóstico , Adolescente , Criança , Pré-Escolar , Diabetes Mellitus/epidemiologia , Feminino , Hepatite Autoimune/diagnóstico , Hepatite Autoimune/epidemiologia , Humanos , Masculino , México , Atrofia Óptica/epidemiologia , Estudos Retrospectivos , Neoplasias Testiculares/epidemiologia , Síndrome de Wolfram/fisiopatologia , Adulto JovemRESUMO
Calcium intake has a role on the development of peak bone mass, and has a mild impact on the maintenance of bone mass during adulthood and the reduction of bone loss rate in postmenopausal women and the elderly in both genders. Calcium dietary intake should be privileged over supplementation. Dairy products are the main calcium dietary sources. Prospective studies have not clearly demonstrated an effect on the prevention of fractures, because of the practical difficulties of a long follow-up in order to get to solid conclusions; however the physiological rationale is that an adequate calcium intake and 25(OH) vitamin D levels exceeding 20 ng/ml is beneficial for bone health and may decrease to certain extent the risk of fractures.
Assuntos
Cálcio da Dieta/administração & dosagem , Cálcio/fisiologia , Fraturas Ósseas/prevenção & controle , Osteoporose/prevenção & controle , Adulto , Densidade Óssea , Feminino , Humanos , Masculino , Estudos Prospectivos , Vitamina D/administração & dosagem , Vitamina D/sangue , Vitaminas/administração & dosagemRESUMO
CONTEXT: Acromegaly is a systemic disorder caused by a GH-secreting pituitary adenoma. As with other rare diseases, acromegaly registries developed in various European countries have provided us with important information. OBJECTIVE: The objective of the study was to analyze the epidemiological, clinical, biochemical, and therapeutic data from the Mexican Acromegaly Registry (MAR). SETTING: The setting of the study was a nationwide patient registry. DESIGN AND METHODOLOGY: The MAR was created in 2009. It gathers data from 24 participating centers belonging to three different institutions using a specifically designed on-line platform. Only patients diagnosed after 1990 were included in the program. RESULTS: A total of 2057 patients (51% female, mean age at diagnosis 41.1 ± 24.5 y) have been registered for an estimated prevalence of 18 cases per 1 million inhabitants. Hypertension, glucose intolerance, diabetes, and dyslipidemia were present in 27%, 18.4%, 30%, and 24% of the patients, respectively. The IGF-1 level at diagnosis and the concomitant presence of hypertension were significantly associated with the development of diabetes. Transsphenoidal surgery was the primary treatment in 72% of the patients. Pharmacological treatment, mostly with somatostatin analogs, was administered primarily and adjunctively in 26% and 54% of the patients, respectively. Treatment choice varied among the three participating institutions, with the predominance of pharmacological therapy in two of them and of radiation therapy in the third. Therapeutic outcomes were similar to those reported in the European registries. CONCLUSIONS: The MAR is the largest and first non-European registry of the disease. Our findings highlight important within-country differences in treatment choice due to variations in the availability of resources.
Assuntos
Acromegalia/etiologia , Adenoma/diagnóstico , Adenoma Hipofisário Secretor de Hormônio do Crescimento/diagnóstico , Hipófise/fisiopatologia , Acromegalia/prevenção & controle , Adenoma/epidemiologia , Adenoma/fisiopatologia , Adenoma/terapia , Adulto , Estudos de Coortes , Terapia Combinada , Feminino , Seguimentos , Adenoma Hipofisário Secretor de Hormônio do Crescimento/epidemiologia , Adenoma Hipofisário Secretor de Hormônio do Crescimento/fisiopatologia , Adenoma Hipofisário Secretor de Hormônio do Crescimento/terapia , Terapia de Reposição Hormonal/efeitos adversos , Hospitais Públicos , Humanos , Hipofisectomia/efeitos adversos , Masculino , México/epidemiologia , Hipófise/efeitos dos fármacos , Hipófise/efeitos da radiação , Hipófise/cirurgia , Padrões de Prática Médica , Prevalência , Radioterapia/efeitos adversos , Sistema de Registros , Estudos Retrospectivos , Somatostatina/análogos & derivados , Somatostatina/uso terapêutico , Resultado do TratamentoRESUMO
Hungry Bone Syndrome refers to the severe and prolonged hypocalcemia and hypophosphatemia, following parathyroidectomy in patients with hyperparathyroidism. We present the case of an eighteen-year-old woman with a four-year history of hyporexia, polydipsia, weight loss, growth retardation, and poor academic performance. The diagnostic work-up demonstrated primary hyperparathyroidism with hypercalcemia of 13.36 mg/dL, a PTH level of 2551 pg/mL, bone brown tumors, and microcalcifications within pancreas and kidneys. Neck ultrasonography revealed a parathyroid adenoma of 33 × 14 × 14 mm, also identified on (99)Tc-sestamibi scan. Bone densitometry showed decreased Z-Score values (total lumbar Z-Score of -4.2). A right hemithyroidectomy and right lower parathyroidectomy were performed. Pathological examination showed an atypical parathyroid adenoma, of 3.8 g of weight and 2.8 cm in diameter. After surgery she developed hypocalcemia with tetany and QTc interval prolongation. The patient required 3 months of oral and intravenous calcium supplementation due to Hungry Bone Syndrome (HBS). After 42 months, she is still under oral calcium. Usually HBS lasts less than 12 months. Therefore we propose the term "Protracted HBS" in patients with particularly long recovery of 1 year. We present a literature review of the diagnosis, pathophysiology, and treatment of HBS.
RESUMO
Phosphaturic mesenchymal tumor (PMT) is a morphologically heterogeneous soft tissue and bone neoplasm, producing a paraneoplastic syndrome due to phosphate wasting. These tumors produce fibroblast growth factor 23, which is implicated in renal tubule phosphate loss. Medical records of patients seen from 1999 to 2013 with osteomalacia associated or not with a tumor were reviewed. Clinical and laboratory data, radiographic studies, and follow-up of 8 patients were tabulated. Histologic features and the immunoprofile of the tumors were analyzed. There were 208 patients with osteomalacia, but only 8 (3.84%) had osteomalacia associated with a tumor. The median age of the patients was 40 years. The tumor size ranged from 1.5 to 4 cm. Five were located in soft tissues and skin; and 3, in bones. Osteomalacia symptoms lasted from 2 to 14 years with a median of 6 years. Laboratory data showed hypophosphatemia and phosphaturia in all patients. All tumors were histologically benign. Histologically, the salient features were a hemangiopericytoid pattern, chronic hemorrhage, and microcystic areas. All neoplasms were diffusely positive for vimentin and focally positive for epithelial membrane antigen, CD34, and S-100 protein. Ki-67 was positive in approximately 10% of neoplastic cells in 2 cases and less than 1% in the remainder. We report 8 cases of PMTs producing osteomalacia, from a single third-level Mexican medical institution. These tumors occurred in soft tissues, skin, and bones. All tumors were benign, small, not easily detected by physical examination and diagnosed due to the metabolic abnormalities.
Assuntos
Hipofosfatemia/patologia , Mesenquimoma/patologia , Neoplasias de Tecido Conjuntivo e de Tecidos Moles/patologia , Osteomalacia/patologia , Adulto , Feminino , Humanos , Hipofosfatemia/etiologia , Masculino , Mesenquimoma/complicações , México , Pessoa de Meia-Idade , Neoplasias de Tecido Conjuntivo e de Tecidos Moles/complicações , Osteomalacia/etiologia , Estudos RetrospectivosRESUMO
UNLABELLED: A sample of 585 healthy subjects 14 years and older was studied to estimate the status of 25-hydroxyvitamin D (25(OH)D) and its correlation with parathyroid hormone in healthy Mexicans. In 43.6 % of the sample, levels of vitamin D were below 20 ng/mL and showed an inverse relationship with parathyroid hormone (PTH; p < 0.01). PURPOSE: The purpose of the present study was to estimate the status of 25-hydroxyvitamin D (25(OH)D) and its correlation with parathyroid hormone in healthy Mexicans. METHODS: A cross-sectional study of 585 healthy subjects 14 years and older was carried out. A questionnaire including all relevant demographics, medical history, and lifestyle factors was applied by trained interviewers. Morning fasting blood was collected in all subjects for estimation of 25(OH)D using liquid chromatography-tandem mass spectrometry and PTH hormone-intact molecule by RIA. RESULTS: Of the group of 585 subjects, 54.1 % were women; the sample was divided in three age groups (14-29, 30-50, and >51). Only 9.6 % of the total sample had levels of 25(OH)D above 30 ng/mL; 46.8 % were between 20 and 29 ng/mL, and 43.6 % were below 20 ng/mL. Regarding PTH, a three-phase model was identified using regression smoothing scatterplot (LOESS), with two thresholds of 25(OH)D of 19 and 29 ng/mL. Phase 1 (25(OH)D <19 ng/mL) showed an inverse relationship with PTH (p < 0.01); phases 2 and 3 showed no significant relationship. CONCLUSION: Our results show that 43.6 % of the Mexicans in this study have deficient concentration levels of vitamin D. The cutoff point of 20 ng/mL of 25(OH)D established by the Institute of Medicine has a biological and statistically significant relationship with PTH levels in the Mexican population, independently of principal confounding factors. Like many other countries, Mexico could be included in the global epidemic of hypovitaminosis D.
Assuntos
Hormônio Paratireóideo/sangue , Deficiência de Vitamina D/epidemiologia , Vitamina D/análogos & derivados , Adolescente , Adulto , Estudos Transversais , Feminino , Voluntários Saudáveis , Humanos , Estilo de Vida , Masculino , México/epidemiologia , Pessoa de Meia-Idade , Prevalência , Valores de Referência , Vitamina D/sangue , Deficiência de Vitamina D/sangue , Adulto JovemRESUMO
We present the case of a 31 year-old male patient, who presented polyneuropathy, symmetrical, ascending, and progressive, that led to prostration of eight months duration, accompanied by hypogonadism, hypothyroidism, hyperprolactinemia, and the presence of multiple erythematous nodules on the skin. The MRI showed hypointense lesions in the vertebrae T-6 and L-4 with sclerotic appearance. The bone marrow biopsy reported the presence of 12% plasma cells with A. restriction, supporting monoclonal gammopathy (plasmocytoma).