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An inherited disorder involving damage to the kidney, blood in the urine, and in some families loss of hearing. The disorder may also include loss of vision.

The common phenotypic features of Branchio-Oto-Renal Syndrome are hearing loss (incidence 93%), preauricular pits or tags (82%), renal anomalies (67%), branchial fistulae (49%), pinnae deformity (36%) and external auditory canal stenosis (29%). The severity of hearing loss ranges from mild to profound and can be conductive, sensorineural and mixed. In addition to external auditory canal stenosis atresia occurs. Middle ear anomalies can include malformation, malposition, dislocation or fixation of the ossicles, and reduction in size or malformation of the middle ear cavity. Inner ear malformations include cochlear hypoplasia, enlargement of the cochlear and vestibular aqueducts, and hypoplasia of the lateral semicircular canal.(Chen, Francis et al. 1995). Renal anomalies range from hypoplasia to aplasia, either unilaterally or bilaterally. Anomalies of the collecting system affect the ureter, calyx and renal pelvis. (Fraser, Ayme et al. 1983; Heimler and Lieber 1986; Konig, Fuchs et al. 1994).

(Based on a page at the University of Iowa.)

Congenital nephrosis was the first monogenic entity found to be enriched in the Finnish population. This nephrotic syndrome of newborns is due to a deficiency of nephrine, a transmembrane podocyte adhesion molecule at the glomerular slit diaphragm. The disease is detected soon after delivery of a baby with a large placenta. Proteinuria, ascites, edema, and hypoproteinemia are the main findings; causing to failure to thrive and susceptibility to infections. The nephrotic manifestations are resistant to conventional drug therapy and without renal transplantation the patients succumb during the first two years of life.
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End-stage kidney disease is a complete or near complete failure of the kidneys to function to excrete wastes, concentrate urine, and regulate electrolytes. Also called End-stage renal disease (ESRD).
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Glomerulonephritis is a type of kidney disease caused by inflammation of the internal kidney structures (glomeruli).
A kidney disorder characterized by blood in the urine; caused by inflammation of the internal kidney structures and deposits of IgA antibodies in the kidney mesangial tissue.
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A disorder of the kidneys that affects the structures (glomeruli) which include small capillaries surrounded by membranes through which the blood is filtered to form urine.
Nephrotic syndrome occurs when the filters in the kidney leak an excessive amount of protein. The level of protein in the blood then falls and this allows fluid to leak across very small blood vessels into the tissues.
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Abnormal condition in which the kidneys are enlarged and contain many cysts. It occurs in childhood and adult forms and often leads to kidney failure.
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Urinary Calculus: stone formed in any part of the urinary system (kidney, ureter, bladder); some are small enough to pass in the urine, with or without pain; others must be removed surgically.
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Last update: Tuesday, December 17, 2013 6:45:08 AM EST - edit