SYNDROME OF HYPOPARATHYROIDISM, DEAFNESS AND RENAL DISEASE (HDR) IN A 7 YEARS OLD BOY AT BAHAWALPUR
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...
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| Autores principales: | , |
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| Formato: | article |
| Lenguaje: | EN |
| Publicado: |
Army Medical College Rawalpindi
2020
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| Acceso en línea: | https://doaj.org/article/d50e2f48fe134388814b352ee79a82a6 |
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| Sumario: | 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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