juvenile nephronophthisis–medullary cystic disease complex
- 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 variants are recognized: a sporadic form; familial juvenile nephronophthisis (def. 2), inherited recessively; Senior-Loken or renal-retinal syndrome, inherited recessively and associated with retinitis pigmentosa; and adult-onset medullary cystic disease (def. 2), inherited dominantly.
Medical dictionary.
2011.
Look at other dictionaries:
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
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
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
