Amelogenesis Imperfecta with Distal Renal Tubular Acidosis: Clinical features, diagnosis and management.

Zhahid Hassan; Syed Nazima; Afreen Nadaf; Shahid Hassan

Volume : IX, Issue : VII, July - 2019

Amelogenesis Imperfecta with Distal Renal Tubular Acidosis: Clinical features, diagnosis and management.

Zhahid Hassan, Syed Nazima, Afreen Nadaf, Shahid Hassan

Abstract :

Amelogenesis imperfecta (AI) is a heterogeneous group of inherited dental enamel defects. It has rarely been reported in association with multiorgan syndromes and metabolic disorders. The metabolic disorders that have been reported in association with AI include hypocalciuria, impaired urinary concentrating ability, and Bartter‑like syndrome. In literature, only three cases of AI and distal renal tubular acidosis (dRTA) have been described: two cases in adults and a solitary case in the pediatric age group. Here, we report a child and two adult twins with AI presenting with dRTA. Our cases highlight the importance of recognizing the possibility of renal abnormalities in patients with AI as it will affect the long‑term prognosis