MEDICAL DICTIONARY
Nephronophthisis 1 (NPH1): A childhood kidney disease in which there is progressive symmetrical destruction of the kidneys involving both the tubules and glomeruli , characteristically resulting in anemia , polyuria , polydipsia , isosthenuria (decreased ability to concentrate the urine), progressive renal failure and death in uremia . Hypertension and proteinuria are conspicuous by their absence. The chronic kidney failure affects growth and leads to short stature. The age at death ranges from around 4 to 15 years.
The disease is inherited as an autosomal recessive trait . It was first described by Guido Fanconi and his colleagues in 1951. It is also called familial juvenile nephronophthisis (FJN) and autosomal recessive medullary cystic kidney disease.
The gene for nephronophthisis 1 is on chromosome 2 in region 2q13 and is designated NPHP1. It codes for a protein dubbed nephrocystin. About 70% of cases of nephronophthisis 1 are caused by large deletions in the 2q13 region in both of the child's number 2 chromosomes . The deletions can be readily detected by a molecular genetic test using the PCR (polymerase chain reaction) .
The tongue-twisting name "nephronophthisis" is derived from "nephron" + "phthisis." The nephron is the fundamental functional unit in the kidney and includes the renal tubule and glomerulus. Phthisis is a Greek word meaning "a dwindling or wasting away."
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