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Hereditary Nephropathy with Haematuria
Author(s) -
HOBOLTH NIELS
Publication year - 1963
Publication title -
acta pædiatrica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.772
H-Index - 115
eISSN - 1651-2227
pISSN - 0803-5253
DOI - 10.1111/j.1651-2227.1963.tb04311.x
Subject(s) - medicine , hearing loss , nephropathy , heredity , albuminuria , nephritis , hereditary diseases , disease , alport syndrome , pediatrics , inheritance (genetic algorithm) , dermatology , glomerulonephritis , genetics , audiology , endocrinology , kidney , diabetes mellitus , gene , biology
Summary This is a study of two families having an inherited nephropathy, manifesting itself in childhood by haematuria and in some cases albuminuria with or without hearing loss–a disease which has previously been described as Alport's syndrome. The first family comprises 22 descendants over three generations of a woman who has probably had hereditary nephropathy. Eight members had the renal disease. Two males had died in uraemia. The mode of inheritance was typically sex‐linked dominant. There was no case of hearing loss. The second family comprised three generations. Among 23 descendants of a woman having hereditary nephropathy and hearing loss there were 11 cases of hereditary nephropathy and two cases of hearing loss. The inheritance was dominant. Sex‐linked inheritance was possible. Especially in children the disease is apt to be misdiagnosed as acute glomerulo‐nephritis. As the symptoms are mild in females, a special search has to be made for the heredity.