Article
Five-Year Follow-Up and Successful Kidney Transplantation in a Girl with a Severe Phenotype of Pierson Syndrome.
Nephron - 1 Jan 2021
Sobieszczańska-Droździel Aleksandra, Grenda Ryszard, Lipska-Ziętkiewicz Beata Stefania, Korolczuk Agnieszka, Jarmużek Wioletta, Sikora Przemyslaw
Abstract excerpt
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,...
Topics
- Child, Preschool
- Female
- Follow-Up Studies
- Humans
- Kidney Transplantation
- Myasthenic Syndromes, Congenital
- Nephrotic Syndrome
- Phenotype
- Pupil Disorders
- Severity of Illness Index