Al-Omairi Anwar, Alabbas Abdullah, Makki Tasneim, Al Saidi Suliaman, Alriyami Mohammed
Pediatric Nephrology, Sultan Qaboos University Hospital, Muscat, OMN.
Pediatric Nephrology, American Hospital Dubai, Dubai, ARE.
Cureus. 2025 Jul 14;17(7):e87894. doi: 10.7759/cureus.87894. eCollection 2025 Jul.
Amelogenesis imperfecta IIA3, caused by mutations in the tryptophan-aspartate repeat domain 72 () gene, has recently been linked to distal renal tubular acidosis (dRTA). This genetic cause of dRTA has been rarely reported, and its full phenotypic spectrum is still being explored. This case report aims to share the clinical presentation and genetic findings of a recently encountered patient with this genetic variant. An eight-year-old girl presented with nocturnal enuresis and enamel hypoplasia. Laboratory investigations revealed normal anion gap metabolic acidosis with inappropriately high urine pH, along with nephrocalcinosis, renal calculi, and a renal cyst. Genetic testing confirmed the presence of a variant in the gene. In addition to the known complications of dRTA, such as nephrocalcinosis and renal calculi, this variant might also be associated with renal cysts. This case adds to the limited literature by suggesting a possible association between variants and renal cysts, an uncommon finding that may expand the phenotypic spectrum of this condition.
IIA3型牙釉质发育不全由色氨酸-天冬氨酸重复结构域72（）基因突变引起，最近被发现与远端肾小管酸中毒（dRTA）有关。dRTA的这一遗传病因鲜有报道，其完整的表型谱仍在探索中。本病例报告旨在分享一名近期确诊携带该基因变异患者的临床表现和基因检测结果。一名8岁女童出现夜间遗尿和牙釉质发育不全。实验室检查显示阴离子间隙正常的代谢性酸中毒，尿pH值异常升高，同时伴有肾钙质沉着、肾结石和肾囊肿。基因检测证实基因存在变异。除了dRTA的已知并发症，如肾钙质沉着和肾结石外，该变异可能还与肾囊肿有关。本病例提示了基因变异与肾囊肿之间可能存在关联，这一罕见发现可能会扩大该病的表型谱，从而增加了有限的相关文献报道。
