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

  • Sumera Akram Bahawal Victoria Hospital, Bhawalpur Pakistan
  • Muhammad Ahmed Khan Bahawal Victoria Hospital, Bhawalpur Pakistan
Keywords: Hypoparathyroidism, Renal disease, Sensorineural deafness

Abstract

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.

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Published
2020-10-31
How to Cite
Akram, S., & Khan, M. (2020). SYNDROME OF HYPOPARATHYROIDISM, DEAFNESS AND RENAL DISEASE (HDR) IN A 7 YEARS OLD BOY AT BAHAWALPUR. Pakistan Armed Forces Medical Journal, 70(5), 1596-98. Retrieved from https://pafmj.org/index.php/PAFMJ/article/view/5612
Section
Case Reports