SYNDROME OF HYPOPARATHYROIDISM, DEAFNESS AND RENAL DISEASE (HDR) IN A 7 YEARS OLD BOY AT BAHAWALPUR

Pakistan Armed Forces Medical Journal

Muhammad Ahmed Khan¹  Sumera Akram¹ 

[1] Bahawal Victoria Hospital, Bhawalpur Pakistan;

关键词: hypoparathyroidism;    renal disease;    sensorineural deafness;   

DOI  :  

来源: DOAJ

【 摘 要 】

Syndrome of (hypoparathyroidism, deafness and renal disease) HDS is a rare autosomal dominant syndrome which is characterized by triad of hypoparathyroidism, sensorineural hearing loss and renal disease. The syndrome is caused by mutation of GATA3 gene on chromosome 10p. We report a case of 7 years old boy who presented in Bahawalpur Victoria Hospital Bahawalpur, Pakistan with recurrent tetanic spells, muscular aches and pains for last 15 days. He was operated four years back for renal stones. His blood complete picture was normal except for mild anemia. His serum calcium level was low i.e. 6.9 mg/dL. Serum magnesium, phosphate, alkaline phospha-tase and Vitamin D levels were normal. Serum PTH (parathyroid hormone) level was low i.e. 4.51 pg/ml (Normal range 11-67 pg/mL). Urine RE showed albumin, pus cells and calcium oxalate crystals. Pure tone audiometry showed bilateral mild to moderate degree of sensorineural hearing loss.

【 授权许可】

Unknown