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Kidney stone disease, also known as renal calculus disease, nephrolithiasis or urolithiasis, is a crystallopathy where a solid piece of material (renal calculus) develops in the urinary tract. [2] Renal calculi typically form in the kidney and leave the body in the urine stream. [2] A small calculus may pass without causing symptoms. [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.
Symptoms: Kidney and urinary tract stones, Urinary tract infections, blood in the urine, and chronic kidney disease. [1] Complications: End-stage renal disease. [2] Usual onset: Infancy to late adulthood. [2] Types: Type 1 [3] and type 2. [4] Causes: Mutations in the APRT gene. [2] Diagnostic method: Urine microscopy and kidney stone analysis ...
“My clinical practice focuses entirely on children and adolescents with early-onset kidney stone disease. When I was in residency from 2005 to 2011, stones were rare in children.
That said, kidney stone symptoms can often mimic those of other issues, ... "In rare circumstances, kidney stones may be chemically dissolved," Dr. Ramin says. "Pure uric acid stones, for example ...
Xanthinuria, also known as xanthine oxidase deficiency, is a rare genetic disorder causing the accumulation of xanthine. It is caused by a deficiency of the enzyme xanthine oxidase. It was first formally characterized in 1954. [1]
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