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.
Hypoparathyroidism,sensorineural deafness and renal dysplasia syndromeSensorineural hearing lossGATA3 gene
万方数据
维普
