关键词: Alport syndrome COL4A5 variant X-linked inheritance atypical phenotype founder variant glomerular basement membrane (GBM) hereditary kidney disease kidney biopsy pathology
Mesh : Angiotensin-Converting Enzyme Inhibitors / therapeutic use Biopsy, Needle Collagen Type IV / genetics DNA Mutational Analysis Follow-Up Studies Founder Effect Genetic Predisposition to Disease Genetic Testing / methods Genetic Variation Humans Immunohistochemistry Male Nephritis, Hereditary / diagnosis drug therapy genetics pathology Pedigree Risk Assessment Severity of Illness Index Steroids / therapeutic use Young Adult
来 源:
DOI:10.1053/j.ajkd.2017.09.005
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