Analysis of Clinical Characteristics in 2 Cases of Hypoparathyroidism Sensorineural Deafness and Renal Dysplasia Syndrome
10.3969/j.issn.1006-7299.2024.05.008
- VernacularTitle:2例甲状旁腺功能减低-感音神经性聋-肾发育不良综合征患者临床特点分析
- Author:
Min LIU
1
;
Liping MENG
;
Hui JI
;
Ye FAN
;
Yingying WANG
;
Qin HONG
Author Information
1. 南京医科大学附属妇产医院(南京市妇幼保健院)儿童保健科(南京 210004)
- Keywords:
Hypoparathyroidism,sensorineural deafness and renal dysplasia syndrome;
Sensorineural hearing loss;
GATA3 gene
- From:
Journal of Audiology and Speech Pathology
2024;32(5):422-426
- CountryChina
- Language:Chinese
-
Abstract:
Objective To investigate the clinical characteristics and genetic causes in 2 patients with hypopar-athyroidism,sensorineural deafness and renal dysplasia syndrome(HDR).Methods A retrospective analysis of au-diology,gene detection,and other clinical diagnostic data was performed on 2 patients diagnosed with HDR syn-drome.Results Patient 1 failed the newborn hearing screening(otoacoustic emission)and was diagnosed with mod-erate sensorineural hearing loss through audiology evaluation.Follow-up tests of blood calcium and parathyroid hor-mone levels were normal,and ultrasound examinations of the urinary system and parathyroid gland showed no ab-normalities.Patient 2 passed the newborn hearing screening but failed the 3-year-old physical examination(otoa-coustic emission)and was diagnosed with moderate sensorineural hearing loss.Follow-up tests of blood calcium and parathyroid hormone levels were normal,and the parathyroid gland ultrasound showed no abnormalities,but the re-nal ultrasound showed bilateral small renal calculi with normal morphology.Both patients were diagnosed with HDR syndrome through gene testing,and the 2 GAT A3 gene mutation sites(c.867dup,c.65_68dup)causing the disease were both reported for the first time.Conclusion The clinical phenotypes of HDR syndrome are highly variable.Children with suspected hearing loss accompanied by hypoparathyroidism or renal dysfunction should have gene tes-ting and other related examinations as soon as possible to avoid misdiagnosis.
