Autosomal dominant familial hypoparathyroidism and sensorineural deafness without renal dysplasia

被引:9
|
作者
Watanabe, T
Mochizuki, H
Kohda, N
Minamitani, K
Minagawa, M
Yasuda, T
Niimi, H
机构
[1] Chiba Univ, Sch Med, Dept Pediat, Chuo Ku, Chiba 2608670, Japan
[2] Saitama Childrens Med Ctr, Div Endocrine, Iwatsuki, Saitama, Japan
关键词
D O I
10.1530/eje.0.1390631
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
Objective: A family is described which has a unique combination of autosomal dominant hypoparathyroidism and sensorineural deafness without renal dysplasia, Case report: The proband was a male infant aged 1 month with episodes of seizures for 20 days. He was born at 35 weeks' gestation without asphyxia, weighing 2040 g. His initial calcium, phosphorus and percentage of tubular reabsorption of phosphorus were 6.8 mg/dl (normal range 8.5-10.5 mg/dl), 8.9 mg/dl (normal range 5.5-7.4 mg/dl) and 96.8% (normal range 85-95%) respectively He had normal values for serum parathyroid hormone (PTH) and 25-hydroxyvitamin D. No abnormalities were found by renal imaging and a routine renal function study. He shelved a brisk plasma cAMP increase in response to human PTH-(1-34) infusion. He had normal karyotype 46, XY, without a microdeletion in chromosome 22q11.2 by an in situ hybridization method. Five family members were affected with hypoparathyroidism with sensorineural deafness with autosomal dominant transmission. The study of calcium-sensing receptor and preproPTH gene showed a normal DNA sequence. Conclusion: The combination of familial hypoparathyroidism with sensorineural deafness without renal dysplasia is novel and the cause may be distinct from previously reported familial hypoparathyroidism with sensorineural deafness and renal dysplasia.
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页码:631 / 634
页数:4
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