Marhoon Sara E, Ali Ali H, Husain Ali, Alsudan Ali A, Elshabrawy Eman G
College of Medicine, Mansoura University, Mansoura, EGY.
Pediatrics, Maternity and Children's Hospital, Dammam, SAU.
Cureus. 2024 Feb 9;16(2):e53889. doi: 10.7759/cureus.53889. eCollection 2024 Feb.
Mainzer-Saldino syndrome (MSS) or conorenal syndrome (CRS) is a rare autosomal recessive ciliopathy characterized by multiorgan affection, typically presents with a triad of nephronophthisis (NPHP), retinitis pigmentosa (RP), and cone-shaped epiphysis (CSE) with varying degrees of severity. A 20-month-old male is experiencing recurrent pneumonia attacks, an elevated serum creatinine level, proteinuria, and high anion gap partially compensated metabolic acidosis were incidentally discovered during one of his hospitalizations. A biopsy was performed, and the results supported the diagnosis of Alport syndrome. However, a subsequent genetic test suggests the presence of MSS. Aside from NPHP, RP and CSE tested positive. Based on the fact that MSS is not a common cause of end-stage renal disease (ESRD) in pediatrics, physicians should bear in mind genetic testing as a decisive tool. In this context, we highlighted a case of an accidentally discovered impaired renal function from first presentation to final diagnosis, with a valuable comparison with previously published similar cases.
梅恩泽尔-萨尔迪诺综合征（MSS）或肾眼综合征（CRS）是一种罕见的常染色体隐性遗传性纤毛病，其特征为多器官受累，通常表现为肾单位肾痨（NPHP）、色素性视网膜炎（RP）和圆锥形骨骺（CSE）三联征，严重程度各不相同。一名20个月大的男性反复发生肺炎，血清肌酐水平升高、蛋白尿，且在一次住院期间偶然发现高阴离子间隙部分代偿性代谢性酸中毒。进行了活检，结果支持阿尔波特综合征的诊断。然而，随后的基因检测提示存在MSS。除NPHP外，RP和CSE检测呈阳性。鉴于MSS并非小儿终末期肾病（ESRD）的常见病因，医生应将基因检测作为一种决定性工具牢记于心。在此背景下，我们重点介绍了一例从首次就诊到最终诊断意外发现肾功能受损的病例，并与先前发表的类似病例进行了有价值的比较。
