Browsing by Subject "kidney failure"
Now showing items 21-26 of 26
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Outcome of kidney transplantation in autosomal dominant medullary cystic kidney disease type 1
(2003)Background. Autosomal dominant medullary cystic kidney disease (ADMCKD) is an inherited, distinct, chronic, tubulointerstitial, cystic-type nephropathy, often described together with juvenile nephronophthisis as a single ...
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Refinement of the gene locus for autosomal dominant medullary cystic kidney disease type 1 (MCKD1) and construction of a physical and partial transcriptional map of the region
(2001)Autosomal dominant medullary cystic kidney disease (MCKD) is an adult onset tubulointerstitial nephropathy that leads to salt wasting and end-stage renal failure. A gene locus (MCKD1) has been mapped on chromosome 1q21. ...
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The role of molecular genetics in diagnosing familial hematuria(s)
(2012)Familial microscopic hematuria (MH) of glomer-ular origin represents a heterogeneous group of monogenic conditions involving several genes, some of which remain unknown. Recent advances have increased our understanding and ...
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Thin basement membrane nephropathy: Is there genetic predisposition to more severe disease?
(2009)
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X-linked Alport syndrome in Hellenic families: Phenotypic heterogeneity and mutations near interruptions of the collagen domain in COL4A5
(2012)The X-linked Alport syndrome (ATS) is caused by mutations in COL4A5 and exhibits a widely variable expression. Usually ATS is heralded with continuous microhematuria which rapidly progresses to proteinuria, hypertension ...