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Hereditary macrothrombocytopathia, nephritis and deafness
The American Journal of Medicine, 1972Abstract Two unrelated families were studied in which two members of each have a syndrome of macrothrombocytopathia, nephritis and deafness. A third member of one family, a young child, has the platelet disorder and a mild hearing loss. The mode of inheritance of the syndrome appears to be dominant.
C J, Epstein +6 more
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Hereditary nephritis and the heart
International Urology and Nephrology, 1977Eleven cases of hereditary nephritis were studied for cardiac abnormalities by means of ECG and BCG. With the exception of two cases no significant abnormalities were demonstrable, which indicates that this genetically transmitted process generally leaves the heart unaffected.
L, Gofman, J, Tarján
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Blood coagulation and hereditary nephritis
International Urology and Nephrology, 1979Nineteen patients with hereditary nephritis - members of six families - were studied for haemostasis on 11 occasions by the use of four capillary tests, 14 different blood coagulation tests and two different platelet function tests. Systemic capillaropathy was demonstrable in 8 out of 15 cases of the non-uraemic, and in all the 5 cases of the uraemic ...
G, Boros, L, Gofman
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Hereditary chronic nephritis in India
Annals of Tropical Paediatrics, 1985Forty-six patients from 23 Indian families with hereditary chronic nephritis (HCN) with or without Alport's syndrome are presented. The occurrence of this disease in diverse Indian races, communities and castes is now documented. Clinical and laboratory findings in these patients are similar to those reported from temperate regions.
A, Cariappa +4 more
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Archives of Pediatrics & Adolescent Medicine, 1960
J A, CHAPPELL, W M, KELSEY
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J A, CHAPPELL, W M, KELSEY
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Alport’S Syndrome (Hereditary Nephritis)
2010This is mainly an X-linked dominant inherited trait and the disease manifests in childhood and is progressive. The mutations are located in the COL4A5 gene encoding the α5 chain of type IV collagen. Autosomal Alport syndrome is caused by mutations in the COL4A3 and COL4A4 genes encoding the a3 and a4 chain of type IV collagen.
Margit Pavelka, Jürgen Roth
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The Journal of family practice, 1977
The diagnosis, prognosis, and heredity of glomerulonephritis, in 207 members of one family over five generations was determined. No evidence of significant renal insufficiency or renal associated mortality was found. A history of urinary tract infections was obtained from 58 percent of those with hematuria. Several of those with nephritis also had high-
A S, Peterson, J J, Schubert
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The diagnosis, prognosis, and heredity of glomerulonephritis, in 207 members of one family over five generations was determined. No evidence of significant renal insufficiency or renal associated mortality was found. A history of urinary tract infections was obtained from 58 percent of those with hematuria. Several of those with nephritis also had high-
A S, Peterson, J J, Schubert
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