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Abstract：
Pierson syndrome (PIERSS) is a rare autosomal recessive disorder characterized by the combination of congenital nephrotic syndrome (CNS) and extrarenal symptoms including ocular malformations and neurodevelopmental deficits. PIERSS is caused by biallelic pathogenic variants in the LAMB2 gene leading to the defects of β2-laminin, the protein mainly expressed in the glomerular basement membrane, ocular structures, and neuromuscular junctions. Severe complications of PIERSS lead to the fatal outcome in early childhood in majority of the cases. We report a case of 5-year-old girl with severe phenotype of PIERSS caused by biallelic functional null variants of the LAMB2 gene. Due to consequences of CNS, the patient required bilateral nephrectomy and peritoneal dialysis since early infancy. The course was additionally complicated by tubulopathy, life-threatening infections, severe hypertension, erythropoietin-resistant anemia, generalized muscular hypotonia, neurogenic bladder, profound neurodevelopmental delay, epilepsy, gastrointestinal problems, secondary hypothyroidism, and necessity of repeated ocular surgery due to microcoria, cataract, and nystagmus. Due to multidisciplinary efforts, at the age of 4 years, the kidney transplantation was possible. Currently, the renal graft has an excellent function; however, the girl presents severe neurodevelopmental delay. The report presents a unique long-term follow-up of severe PIERSS with a few new phenotypical findings. It highlights the clinical problems and challenges in management of this rare condition.
摘要：
Pierson综合征（PIERSS）是一种罕见的常染色体隐性遗传疾病，其特征是先天性肾病综合征（CNS）和肾外症状，包括眼部畸形和神经发育缺陷。PIERSS是由LAMB2基因的双等位基因致病变异导致β2-层粘连蛋白的缺陷引起的，该蛋白主要表达在肾小球基底膜，眼结构,和神经肌肉接头.在大多数情况下，PIERSS的严重并发症会导致儿童早期的致命后果。我们报告了一例5岁女孩，由LAMB2基因的双等位基因功能无效变体引起的PIERSS严重表型。由于中枢神经系统的后果，患者从婴儿早期开始需要双侧肾切除术和腹膜透析.该过程还伴有肾小管病，危及生命的感染,严重的高血压,促红细胞生成素抗性贫血,全身肌张力减退,神经源性膀胱，严重的神经发育迟缓,癫痫,肠胃问题,继发性甲状腺功能减退,以及由于微角膜而需要反复进行眼科手术，白内障,和眼球震颤.由于多学科的努力，在4岁的时候，肾移植是可能的。目前,肾移植物具有优异的功能；然而，这个女孩表现出严重的神经发育迟缓。该报告提供了严重PIERSS的独特长期随访，并有一些新的表型发现。它强调了这种罕见疾病管理中的临床问题和挑战。
