Genetic variants in the LAMA5 gene in pediatric nephrotic syndrome.

doi:10.1093/ndt/gfy028

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Article

Genetic variants in the LAMA5 gene in pediatric nephrotic syndrome.

Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association - 1 Mar 2019

Braun Daniela A, Warejko Jillian K, Ashraf Shazia, Tan Weizhen, Daga Ankana, Schneider Ronen, Hermle Tobias, Jobst-Schwan Tilman, Widmeier Eugen, Majmundar Amar J, Nakayama Makiko, Schapiro David, Rao Jia, Schmidt Johanna Magdalena, Hoogstraten Charlotte A, Hugo Hannah, Bakkaloglu Sevcan A, Kari Jameela A, El Desoky Sherif, Daouk Ghaleb, Mane Shrikant, Lifton Richard P, Shril Shirlee, Hildebrandt Friedhelm

Abstract excerpt

BACKGROUND: Nephrotic syndrome (NS), a chronic kidney disease, is characterized by significant loss of protein in the urine causing hypoalbuminemia and edema. In general, ∼15% of childhood-onset cases do not respond to steroid therapy and are classified as steroid-resistant NS (SRNS). In ∼30% of cases with SRNS, a causative mutation can be detected in one of 44 monogenic SRNS genes. The gene LAMA5 encodes...

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PMID: 29534211
DOI: 10.1093/ndt/gfy028
PMCID: PMC6399483

Genes

LAMA5

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