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Familial Juvenile Nephronophthisis: Report of a Case including Microdissection Studies
Author(s) -
McCREDIE D. A.,
BAXTER THELMA J.
Publication year - 1976
Publication title -
journal of paediatrics and child health
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.631
H-Index - 76
eISSN - 1440-1754
pISSN - 1034-4810
DOI - 10.1111/j.1440-1754.1976.tb02348.x
Subject(s) - nephronophthisis , microdissection , medicine , nephron , loop of henle , anatomy , juvenile , pathology , kidney , biology , genetics , phenotype , gene
McCredie, D. A., and Baxter, Thelma J. (1976).Aust. paediat. J. , 12, 118–127. Familial juvenile nephronophthisis. Report of a case including microdissection studies. Clinical and pathological findings are described in an 18‐year‐old male who died from familial juvenile nephronophthisis. Particular attention is devoted to microdissection studies. Diverticula were found in most segments of the nephron and were much more prominent than in any other renal disease. They reached maximal size and number in the distal convoluted tubule but were also well developed in the loop of Henle and most other areas. Cysts were present in collecting tubules and proximal tubules, and were particularly prominent at the junction of Henle's loop with the distal tubule. Marked convolution of Henle's loop was also a feature. The condition appears to begin in the distal nephron, but progresses to involve all segments. The etiology is obscure. Reports from other centres overseas suggest that this condition is more frequent than is generally appreciated.