Search results
Results from the WOW.Com Content Network
Fanconi syndrome or Fanconi's syndrome (English: / f ɑː n ˈ k oʊ n i /, / f æ n-/) is a syndrome of inadequate reabsorption in the proximal renal tubules [1] of the kidney. The syndrome can be caused by various underlying congenital or acquired diseases , by toxicity (for example, from toxic heavy metals ), or by adverse drug reactions . [ 2 ]
Dent's disease (or Dent disease) is a rare X-linked recessive inherited condition that affects the proximal renal tubules [1] of the kidney.It is one cause of Fanconi syndrome, and is characterized by tubular proteinuria, excess calcium in the urine, formation of calcium kidney stones, nephrocalcinosis, and chronic kidney failure.
Cystinosis is the most common cause of Fanconi syndrome in the pediatric age group. Fanconi syndrome occurs when the function of cells in renal tubules is impaired, leading to abnormal amounts of carbohydrates and amino acids in the urine, excessive urination, and low blood levels of potassium and phosphates. [citation needed]
This syndrome is caused by mutations in the OCRL gene which encodes an inositol polyphosphate-5-phosphatase. At least one mechanism by which these mutations cause this syndrome is by loss of its Rab-binding domain. [7] [8] This protein is associated with the primary cilia of the retinal pigment epithelial cells, fibroblasts and kidney tubular ...
A medical triad is a group of three signs or symptoms, the result of injury to three organs, which characterise a specific medical condition. The appearance of all three signs conjoined together in another patient, points to that the patient has the same medical condition, or diagnosis.
NADH:ubiquinone oxidoreductase complex assembly factor 6 is a protein that in humans is encoded by the NDUFAF6 gene. The protein is involved in the assembly of complex I in the mitochondrial electron transport chain. [4] Mutations in the NDUFAF6 gene have been shown to cause Complex I deficiency, Leigh syndrome, and Acadian variant Fanconi ...
But these are common bird flu symptoms in humans, according to the CDC: Eye redness (conjunctivitis) Mild flu-like upper respiratory symptoms. Pneumonia requiring hospitalization. Fever or feeling ...
The toxic effect of lead causes nephropathy and may cause Fanconi syndrome, in which the proximal tubular function of the kidney is impaired. [67] Long-term exposure at levels lower than those that cause lead nephropathy have also been reported as nephrotoxic in patients from developed countries that had chronic kidney disease or were at risk ...