BMC Nephrol 2017 Jul 6;18(1):220. Epub 2017 Jul 6.
Department of Pediatrics, Kansai Medical University, 2-5-1 Shimachi, Hirakata, Osaka, 573-1010, Japan.
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BMC Pediatr 2016 Mar 22;16:44. Epub 2016 Mar 22.
Department of Pediatrics, Tongji Hospital, Tongji Medical College, Huazhong University of Science & Technology, Wuhan, 430030, China.
Background: LAMB2 mutations cause Pierson syndrome (OMIM 609049), an autosomal recessive genetic disease typically characterized by congenital nephrotic syndrome (CNS) and early onset renal failure, as well as bilateral microcoria. NPHP1 mutations cause familial juvenile nephronophthisis type 1 (NPHP1, OMIM 256100), another autosomal recessive renal disease that usually occurs years after birth. Both Pierson syndrome and nephronophthisis cause end-stage renal disease and rare kidney diseases in children. Read More
Eur J Med Res 2016 Apr 30;21:19. Epub 2016 Apr 30.
Division of Pediatric Nephrology, Department of Pediatrics, Lausanne University Hospital, Rue du Bugnon 46, 1011, Lausanne, Switzerland.
Background: Pierson syndrome (PS) is a rare autosomal recessive disorder, caused by mutations in the laminin β2 (LAMB2) gene. It is characterized by congenital nephrotic syndrome, microcoria, and neurodevelopmental deficits. Several mutations with genotype-phenotype correlations have been reported, often with great clinical variability. Read More
Clin Nephrol 2017 Jan;87 (2017)(1):33-38
Background: Mutations of the LAMB2 gene mainly cause Pierson syndrome (OMIM) #609049), characterized by congenital nephrotic syndrome (CNS) and complex ocular involvements with microcoria as the most prominent clinical feature. However, the phenotypic spectrum of LAMB2-associated disorders is broader, isolated congenital or infantile nephrotic syndrome can also be seen. The aim of this study was to explore the phenotypes of different LAMB2 mutations in China. Read More
Genet Couns 2013 ;24(2):141-7
Departmentof Neonatology, Dr Sami Ulus Maternity and Children Training and Research Hospital, Ankara, Turkey.
Pierson syndrome is a rare autosomal recessive disorder which is mainly characterized by congenital nephrotic syndrome (CNS), diffuse mesangial sclerosis (DMS) and distinct ocular abnormalities, including microcoria. Most affected children exhibit early onset of chronic renal failure, neurodevelopmental deficits, and blindness. It is caused by a homozygous or compound heterozygous mutation in the gene encoding laminin beta2 (LAMB2) on chromosome 3p21. Read More