Harshman Lyndsay A, Ng Bobby G, Freeze Hudson H, Trapane Pamela, Dolezal Anna, Brophy Patrick D, Brumbaugh Jane E
Division of Pediatric Nephrology, Stead Family Department of Pediatrics, University of Iowa Children's Hospital, Iowa City, Iowa, USA.
Human Genetics Program Sanford Burnham Prebys Medical Discovery Institute, Sanford Children's Health Research Center, La Jolla, CA, USA.
Pediatr Int. 2016 Aug;58(8):785-8. doi: 10.1111/ped.12988. Epub 2016 Jun 21.
Congenital nephrotic syndrome (NS) in the newborn is most frequently related to mutations in genes specific for structural integrity of the glomerular basement membrane and associated filtration structures within the kidney, resulting in massive leakage of plasma proteins into the urine. Occurrence of congenital NS in a multi-system syndrome is less common. We describe the case of an infant with deteriorating neurological status, seizures, edema, and proteinuria who was found to have a mutation in gene ALG1 and a renal biopsy consistent with congenital NS. Furthermore, we briefly review rare existing case reports documenting congenital NS in patients with mutations in ALG1, and treatment strategies, including novel use of peritoneal dialysis.
新生儿先天性肾病综合征（NS）最常与肾脏内肾小球基底膜及相关滤过结构的结构完整性特异性基因的突变有关，导致血浆蛋白大量漏入尿液。先天性NS在多系统综合征中的发生较为少见。我们描述了一例婴儿病例，该婴儿出现神经功能状态恶化、癫痫发作、水肿和蛋白尿，经检测发现其ALG1基因存在突变，肾活检结果符合先天性NS。此外，我们简要回顾了现有罕见的病例报告，这些报告记录了ALG1基因突变患者的先天性NS情况，以及治疗策略，包括腹膜透析的新应用。
