RESUMEN
PURPOSE: Studies on cardiac structural and functional abnormalities in primary hyperparathyroidism (PHPT) have yielded conflicting and inconsistent results. In this prospective case-control study, we sought to compare cardiac structure and function in symptomatic PHPT patients and controls. METHODS: One hundred consecutive symptomatic PHPT patients and 113 matched controls underwent echocardiographic evaluation by the same operator. RESULTS: Left ventricular mass index (LVMI) was significantly higher in patients as compared to controls, (median of 90.95 g/m2 vs 86.5 g/m2, p = 0.041). Patients had significantly lower early trans-mitral diastolic flow (E velocity) as compared to controls (57.13 ± 14.88 vs 64.76 ± 15.45 cm/s, p < 0.001). Patients also had significantly lower early to late mitral annular velocity (E/A) as compared to controls (0.98 ± 0.37 vs 1.10 ± 0.34, p 0.013). Patients had higher frequency of aortic valve calcification (29% vs 2.65%, p < 0.001), mitral annular calcification (23% vs. 4.42%, p < 0.001), myocardial and septal calcifications (25% vs none, p < 0.001) as compared to controls. Serum PTH, calcium and uric acid significantly correlated with calcifications. Serum calcium showed a negative correlation with E/A ratio. CONCLUSIONS: Symptomatic patients with PHPT have substantial cardiac structural and functional abnormalities. These abnormalities include elevated LVMI, diastolic dysfunction, and aortic valve, mitral annular, septal and myocardial calcifications. We strongly suggest and conclude that the evaluation of PHPT patients should not only include traditional end organs like bones and kidneys but also the cardiovascular system in the form of echocardiography to detect subclinical cardiac dysfunction so that the cardiovascular health of such patients can be optimized.
Asunto(s)
Calcinosis , Cardiomiopatías , Enfermedades de las Válvulas Cardíacas , Ventrículos Cardíacos , Hiperparatiroidismo Primario , Calcinosis/sangre , Calcinosis/diagnóstico por imagen , Calcinosis/etiología , Calcio/sangre , Cardiomiopatías/diagnóstico , Cardiomiopatías/etiología , Cardiomiopatías/fisiopatología , Estudios de Casos y Controles , Diagnóstico Precoz , Ecocardiografía/métodos , Ecocardiografía/estadística & datos numéricos , Femenino , Enfermedades de las Válvulas Cardíacas/etiología , Enfermedades de las Válvulas Cardíacas/patología , Enfermedades de las Válvulas Cardíacas/fisiopatología , Ventrículos Cardíacos/diagnóstico por imagen , Ventrículos Cardíacos/patología , Humanos , Hiperparatiroidismo Primario/complicaciones , Hiperparatiroidismo Primario/diagnóstico , Masculino , Persona de Mediana Edad , Tamaño de los Órganos , Hormona Paratiroidea/sangreAsunto(s)
COVID-19/complicaciones , Desamino Arginina Vasopresina/administración & dosificación , Diabetes Insípida Neurogénica , Hipofisitis/diagnóstico , Imagen por Resonancia Magnética/métodos , Hipófisis/diagnóstico por imagen , Fármacos Antidiuréticos/administración & dosificación , COVID-19/sangre , COVID-19/diagnóstico , COVID-19/fisiopatología , COVID-19/terapia , Diabetes Insípida Neurogénica/sangre , Diabetes Insípida Neurogénica/etiología , Diabetes Insípida Neurogénica/fisiopatología , Diabetes Insípida Neurogénica/terapia , Diagnóstico Diferencial , Femenino , Humanos , Hipofisitis/fisiopatología , Hipofisitis/virología , Persona de Mediana Edad , SARS-CoV-2/aislamiento & purificación , Resultado del Tratamiento , Síndrome Post Agudo de COVID-19RESUMEN
PURPOSE: The true association between primary hyperparathyroidism (PHPT) and pancreatitis continues to be controversial. In this study, we present clinical data, investigative profile, management and follow-up of PHPT patients with pancreatitis and compare this group with PHPT patients without pancreatitis. METHODS: Records of 242 patients with PHPT managed at our center over 24 years were retrospectively analyzed for demographic and laboratory data. The diagnosis of pancreatitis was entertained in the presence of at least two of the three following features: abdominal pain, levels of serum amylase greater than three times the normal or characteristic features at imaging. RESULTS: Fifteen (6.19%) of the 242 consecutive patients with PHPT had had pancreatitis. Fourteen patients (93.3%) had acute pancreatitis (AP), while one patient had chronic calcific pancreatitis. Over half (8 of 14) of the patients with AP had at least two episodes of pancreatitis. Pancreatitis was the presenting symptom in 14 (93.3%) patients. None of the pancreatitis cases had additional risk factors for pancreatitis. PHPT patients with pancreatitis had significantly higher serum calcium and ALP than PHPT patients without pancreatitis. After successful parathyroidectomy, 14 patients had no further attacks of pancreatitis during a median follow-up of 16 months (range 2-41 months), while recurrence of pancreatitis was seen in one patient. CONCLUSIONS: We conclude that pancreatitis can be the only presenting complaint of PHPT. Our study highlights the importance of fully investigating for PHPT in any pancreatitis patient with high normal or raised serum calcium level, especially in the absence of other common causes of pancreatitis.
Asunto(s)
Hiperparatiroidismo Primario/complicaciones , Pancreatitis/complicaciones , Adulto , Anciano , Calcio/sangre , Estudios de Casos y Controles , Niño , Diagnóstico Diferencial , Femenino , Humanos , Hiperparatiroidismo Primario/diagnóstico , Hiperparatiroidismo Primario/epidemiología , Hiperparatiroidismo Primario/terapia , Masculino , Persona de Mediana Edad , Pancreatitis/diagnóstico , Pancreatitis/epidemiología , Pancreatitis/terapia , Hormona Paratiroidea/sangre , Paratiroidectomía , Estudios Retrospectivos , Adulto JovenRESUMEN
Hereditary distal renal tubular acidosis (dRTA) is a rare genetic disease that is caused by mutations in SLC4A1, ATP6V1B1, or ATP6V0A4. However, there are many families with hereditary dRTA in whom the disease-causing genes are unknown. Accordingly, we performed whole exome sequencing and genetic studies of the members of a family with autosomal recessive dRTA of an unknown genetic etiology. Here, we report compound heterozygous pathogenic variations in tryptophan-aspartate repeat domain 72 (WDR72) (c.1777A>G [p.R593G] and c.2522T>A [p.L841Q]) in three affected siblings of a family with dRTA. Both variants segregated with dRTA in the family and were not observed in normal control subjects. Homologous modeling and in silico mutagenesis indicated that R593G and L841Q alter the H-bond formations in the nearby residues, affecting the WDR72 protein structure. All these evidences indicate that the identified WDR72 variations were probably to have caused hereditary dRTA in the reported family. In addition, homozygous nonsense mutation (c.2686C>T [p.R896X]) was identified in another family, strongly supporting the causal role of WDR72 in dRTA. Based on our literature review, WDR72 mutations associated with dRTA have not been previously described. This is the first identification of pathogenic variations in WDR72 as a cause of hereditary dRTA.
Asunto(s)
Acidosis Tubular Renal/diagnóstico , Acidosis Tubular Renal/genética , Estudios de Asociación Genética , Predisposición Genética a la Enfermedad , Mutación , Proteínas/genética , Adolescente , Adulto , Secuencia de Aminoácidos , Biomarcadores , Estudios de Casos y Controles , Niño , Biología Computacional/métodos , Análisis Mutacional de ADN , Femenino , Estudios de Asociación Genética/métodos , Genotipo , Humanos , Masculino , Modelos Moleculares , Linaje , Fenotipo , Conformación Proteica , Proteínas/química , Secuenciación del Exoma , Adulto JovenRESUMEN
Amelogenesis imperfecta (AI) is a heterogeneous group of inherited dental enamel defects. It has rarely been reported in association with multiorgan syndromes and metabolic disorders. The metabolic disorders that have been reported in association with AI include hypocalciuria, impaired urinary concentrating ability, and Bartter-like syndrome. In literature, only three cases of AI and distal renal tubular acidosis (dRTA) have been described: two cases in adults and a solitary case in the pediatric age group. Here, we report a child with AI presenting with dRTA; to the best of our knowledge, our reported case is the only second such case in pediatric age group. Our case highlights the importance of recognizing the possibility of renal abnormalities in patients with AI as it will affect the long-term prognosis.