Hypertensive Nephropathy

Watchlist

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Retrieved

2019-09-22

Source

Omim

Trials

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Genes

INF2, NPHS2, UMOD, SLC3A1, COL4A3, COL4A4, AGT, POSTN, PPARA, AGTR1, SHC1, CFL1, RAG1, COL1A1, HP, ACE, HNP1, CHGA, FHL2, SMAD3, REN, B2M, RAC1, CYP4A11, HAVCR1, BASP1, ANGPT2, SYNPO, SIRT3, BRD4

INF2, NPHS2, UMOD, SLC3A1, COL4A3, COL4A4, AGT, POSTN, PPARA, AGTR1, SHC1, CFL1, RAG1, COL1A1, HP, ACE, HNP1, CHGA, FHL2, SMAD3, REN, B2M, RAC1, CYP4A11, HAVCR1, BASP1, ANGPT2, SYNPO, SIRT3, BRD4, KLF15, ACE2, ALB, SMURF2, DNER, MIR107, MIR29A, APOL1, TNF, VEGFA, C3, CYP3A5, TLR4, SLC5A2, VPS51, CD40, RARRES2, KLF6, NT5E, SMAD7, CYP3A4, NR4A1, EPAS1, ELAVL2, ACTN4

Drugs

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Clinical Features

Chung et al. (2003) described an extensive, 4-generation African American family, residing in western Pennsylvania, with an autosomal dominant nephropathy. The disorder was clinically diagnosed as hypertensive nephropathy in multiple family members. Of the 18 affected individuals studied, 7 had end-stage renal disease, including the 13-year-old proband. The proband presented with hypertension and proteinuria and underwent a kidney biopsy that revealed focal segmental glomerular sclerosis (FSGS; 603278)-like lesions with arteriolar thickening.

Mapping

By linkage analysis in an African American family segregating hypertensive nephropathy, Chung et al. (2003) found a maximum multipoint lod score of 5.4 in the 9q31-q32 region under an autosomal dominant model with 99% penetrance. The locus, which the authors termed HNP1, was narrowed to an 8-cM region. Candidate gene sequencing studies excluded the coding regions of the ACTL7A (604303), ACTL7B (604304), and CTNNAL1 (604785) genes.