Misgar R A, Hassan Z, Wani A I, Bashir M I
Department of Endocrinology, Sher-i-Kashmir Institute of Medical Sciences, Srinagar, Jammu and Kashmir, India.
Indian J Nephrol. 2017 May-Jun;27(3):225-227. doi: 10.4103/0971-4065.202826.
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 with AI presenting with dRTA; to the best of our knowledge, our reported case is the only second such case in pediatric age group. Our case highlights the importance of recognizing the possibility of renal abnormalities in patients with AI as it will affect the long-term prognosis.
牙釉质发育不全（AI）是一组遗传性牙釉质缺陷的异质性疾病。很少有报道称其与多器官综合征和代谢紊乱相关。已报道的与AI相关的代谢紊乱包括低钙尿症、尿浓缩能力受损和巴特综合征样综合征。在文献中，仅描述了3例AI与远端肾小管酸中毒（dRTA）相关的病例：2例成人病例和1例儿童病例。在此，我们报告1例患有AI并伴有dRTA的儿童；据我们所知，我们报告的病例是儿童年龄组中第二例此类病例。我们的病例突出了认识到AI患者存在肾脏异常可能性的重要性，因为这将影响长期预后。
