familial juvenile nephronophthisis

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• familial juvenile nephronophthisis — 1. a progressive hereditary disease of the kidneys characterized clinically by anemia, polyuria, and renal loss of sodium, progressing to chronic renal failure; pathological characteristics include tubular atrophy, interstitial fibrosis,… …   Medical dictionary

• Familial juvenile nephronophthisis (FJN) — A childhood genetic 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… …   Medical dictionary

• juvenile nephronophthisis–medullary cystic disease complex — a term preferred by some authorities to denote familial juvenile nephronophthisis (def. 1), on the grounds that although the various diseases have identical clinical manifestations, their modes of inheritance and ages of onset are different. Four …   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 …   Medical dictionary

• Juvenile myoclonic epilepsy — Classification and external resources ICD 10 G40.3 ICD 9 345.1 …   Wikipedia

• NPHP1 — Nephronophthisis 1 (juvenile) PDB rendering based on 1s1n …   Wikipedia

• hereditary tubulointerstitial nephritis — familial juvenile nephronophthisis (def. 1) …   Medical dictionary

• medullary cystic disease — n a progressive familial kidney disease that is characterized by renal medullary cysts and that manifests itself in anemia and uremia * * * medullary cystic kidney disease 1. familial juvenile nephronophthisis. 2. according to some authorities,… …   Medical dictionary

• MALL — Mal, T cell differentiation protein like, also known as MALL, is a human gene.cite web | title = Entrez Gene: MALL mal, T cell differentiation protein like| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene Cmd=ShowDetailView… …   Wikipedia

• Medullary cystic kidney disease, autosomal recessive type — A childhood genetic 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… …   Medical dictionary

• Senior-Loken syndrome — a rare autosomal recessive syndrome of tapetoretinal degeneration and familial juvenile nephronophthisis; it is considered by some authorities to be a part of the juvenile nephronophthisis–medullary cystic disease complex. Called also renal… …   Medical dictionary