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Severe clinical phenotype caused by the COL4A5 compound heterozygous variation in a female patient with X-linked dominant inheritance Alport syndrome： a case report and literature review

Linchuang shenzangbing zazhi
Zhang Hong-wen
doaj  

[Familial hereditary nephritis].

Wiadomosci lekarskie (Warsaw, Poland : 1960), 1970
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Hereditary nephritis and pregnancy

American Journal of Obstetrics and Gynecology, 1969
A 25-year-old woman is presented with congenital ocular defects, perceptive hearing loss since aged 8, and evidence of chronic renal disease since aged 19. During her second pregnancy she developed the nephrotic syndrome which spontaneously subsided post partum, despite persistent evidence of reduced renal function and proteinuria. A percutaneous renal
G N, Gill, J P, Hayslett
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Hereditary nephritis and the heart

International Urology and Nephrology, 1977
Eleven 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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Hereditary chronic nephritis in India

Annals of Tropical Paediatrics, 1985
Forty-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, A, Date, C K, Jacob, M G, Kirubakaran, J C, Shastry   +4 more
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Hereditary macrothrombocytopathia, nephritis and deafness

The American Journal of Medicine, 1972
Abstract 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, M A, Sahud, C F, Piel, J R, Goodman, M R, Bernfield, J H, Kushner, A R, Ablin   +6 more
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Blood coagulation and hereditary nephritis

International Urology and Nephrology, 1979
Nineteen 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 Nephritis With the Nephrotic Syndrome

Archives of Internal Medicine, 1970
The nephrotic syndrome defined as a process characterized by increased glomerular membrane permeability manifested by proteinuria of greater than 3.5 gm/24 hr/1.73 sq m body surface was found in five of 15 patients from six families with hereditary nephritis and deafness.
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HYPERPROLINÆMIA AND HEREDITARY NEPHRITIS

The Lancet, 1964
H, KOPELMAN, A M, ASATOOR, M D, MILNE
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Hereditary Nephritis

Archives of Pediatrics & Adolescent Medicine, 1960
J A, CHAPPELL, W M, KELSEY
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