hypoparathyroidism-deafness-renal disease syndrome — Definition

Hipoparatiroidizm-sağırlık-böbrek hastalığı sendromu; hypoparathyroidism is a rare genetic disorder, where sensorinural hearing loss and kidney disease are seen together. The autozomal dominant inheritance shows paterni and is caused by mutations in the GATA3 gene. Clinical findings include hypocalcemia-related tetani, seizures and progressive hearing loss. Kidney arrest may often occur in mild protein or kidney failure.

The Turkish equivalent of "hypoparathyroidism-deafness-renal disease syndrome" is Hipoparatiroidizm-sağırlık-böbrek hastalığı sendromu.

This term belongs to the Diseases category.