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Familial Juvenile Nephronophthisis—Report of Cases in Two Siblings—
Author(s) -
Kobayashi Akio,
Imai Masashi,
Murata Hiroo,
Sato Hitoshi
Publication year - 1967
Publication title -
pediatrics international
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.49
H-Index - 63
eISSN - 1442-200X
pISSN - 1328-8067
DOI - 10.1111/j.1442-200x.1967.tb02098.x
Subject(s) - nephronophthisis , medicine , juvenile , biopsy , renal biopsy , cilium , pathology , pediatrics , genetics , gene , biology , phenotype
Summary Two brothers who have shown symptoms and signs typical of the so‐called ‘familial juvenile nephronophthisis’ since about seven years of age are presented. Both are still alive and in chronic renal failure. Renal biopsy performed in one case (H.K.) revealed the typical changes described in the literature. An electron microscopic study showed many electron dense bodies in the proximal tubular epithelium.