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Results 1 - 10 of 37 for Kidney failure
  1. ... membranes, eventually scarring the kidneys and leading to kidney failure. Variants this gene can also lead to abnormal ... hematuria. Thin basement membrane nephropathy rarely progresses to kidney failure.Goodpasture syndrome is a severe disease of the ...
  2. ... 1, a chronic kidney disorder that can cause kidney failure. Most of the mutations lead to the production ... 1. Abnormal proximal tubule function ultimately leads to kidney failure in most affected individuals. More About This Health ...
  3. ... and waste products from the body, resulting in kidney failure. Individuals with this condition have one mutated copy ... associated with early-onset hyperuricemia, anemia, and chronic kidney failure. Am J Hum Genet. 2009 Aug;85(2): ...
  4. ... membranes, eventually scarring the kidneys and leading to kidney failure. Variants in this gene can also lead to ... hematuria. Thin basement membrane nephropathy rarely progresses to kidney failure. alpha 4 type IV collagen CA44 CO4A4_HUMAN ...
  5. ... abnormalities can cause kidney damage and life-threatening kidney failure.The effects of CAKUT-associated PAX2 gene variants ... Manligas GS, Sieving PA. Optic nerve dysplasia and renal insufficiency in a family with a novel PAX2 mutation, ...
  6. ... impairment of kidney (renal) function and leads to kidney failure. This condition is characterized by the accumulation of protein clumps called amyloid deposits in the kidneys. When the condition is caused by FGA gene ...
  7. ... BSND causes Bartter syndrome with sensorineural deafness and kidney failure. Nat Genet. 2001 Nov;29(3):310-4. doi: 10.1038/ng752. Citation on PubMed Estevez R, Boettger T, ... of Disease: the kidney-specific chloride channels ClCKA and ClCKB, the Barttin ...
  8. ... urine, swelling (edema) of the abdomen, and ultimately, kidney failure. Isolated nephrotic syndrome includes diffuse glomerulosclerosis, in which scar tissue forms throughout the clusters of tiny blood vessels (glomeruli) in the kidneys, and focal segmental glomerulosclerosis, in which glomeruli in ...
  9. ... protein in the urine, swelling (edema), and possible kidney failure. Both of the KANK2 gene mutations associated with this condition change single amino acids in SIP. These changes are predicted to ... of kidney cells called podocytes, which are critical for filtering ...
  10. ... in the urine (proteinuria), kidney stones, and ultimately kidney failure. It is unknown how loss of the OCRL enzyme contributes to the other signs and symptoms of this ... 2 primarily affects the kidneys and, to a lesser extent, the brain, eyes, ...
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