A rare cause of hypocalcemia: Hypoparathyroidism, sensorineural deafness, and renal disease syndrome

S. Benamer, P. Jennings
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Abstract

Hypocalcemia is a common electrolyte disturbance with a variety of causes. Hypoparathyroidism, sensorineural deafness, and renal disease (HDR) syndrome is a rare autosomal-dominant genetic disorder characterized by hypoparathyroidism, sensorineural deafness, and renal disease. This is a case presentation of HDR syndrome that had been referred to a hospital with hypocalcemia. This case has a unique feature as it has been diagnosed in adult age because usually HDR syndrome is diagnosed in pediatric age group.
低钙症的罕见病因:甲状旁腺功能减退症、感音神经性耳聋和肾脏疾病综合征
低钙血症是一种常见的电解质紊乱,有多种原因。甲状旁腺功能减退、感音神经性耳聋和肾脏疾病(HDR)综合征是一种罕见的常染色体显性遗传病,以甲状旁腺功能减退、感音神经性耳聋和肾脏疾病为特征。这是一个HDR综合征的病例,因低钙血症被转诊到医院。由于HDR综合征通常在儿童年龄组被诊断,本病例的独特之处在于它已被诊断为成人。
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