WT-1 and NPHS2 mutation analysis in patients with non-familial steroid-resistant focal-segmental glomerulosclerosis.

Abstract

BACKGROUND:

Familial forms of steroid-resistant nephrotic syndrome with the histologic findings of focal-segmental glomerulosclerosis have frequently a genetic basis. For the non-familial forms this is still unresolved.

PATIENTS AND METHODS:

Ten children with non-familial steroid-resistant nephrotic syndrome along with focal-segmental glomerulosclerosis were tested for mutations in the WT-1 and NPHS2 genes.

RESULTS:

In 1 patient, a mutation in intron 9 of the WT-1 gene and in 1 patient a heterozygous NPHS2 mutation could be detected. Both abnormalities are important for the treatment modalities and prognosis.

CONCLUSION:

Additional studies will have to provide a solid basis for the recommendation of mutation analysis in non-familial steroid-resistant focal-segmental glomerulosclerosis.

• Authors: M M Löwik, E N Levtchenko, L A H Monnens, L P W J van den Heuvel
• Journal: Clinical nephrology (Clin Nephrol) Vol. 59 Issue 2 Pg. 143-6 (Feb 2003) ISSN: 0301-0430 [Print] Germany
• PMID: 12608558 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Intracellular Signaling Peptides and Proteins
• Membrane Proteins
• NPHS2 protein
• WT1 Proteins

Topics

• Child
• Child, Preschool
• DNA Mutational Analysis
• Female
• Glomerulosclerosis, Focal Segmental (genetics)
• Humans
• Intracellular Signaling Peptides and Proteins
• Introns
• Male
• Membrane Proteins (genetics)
• Nephrotic Syndrome (genetics)
• Polymorphism, Genetic
• WT1 Proteins (genetics)