Hereditary nephritis with macrothrombocytopenia: Phenotypic variety and the genotypic defect

Journal of Nephrology

Volumn 15, Issue 3, 2002, Pages 320-323

  Basile, Carlo ^a   Schiavone, Palmira ^a   Heidet, Laurence ^a   Grünfeld, Jean Pierre ^a  

^a NONE   (Italy)

Author keywords

Alport syndrome; Epstein syndrome; Hereditary nephritis; Macrothrombocytopenia; May Hegglin anomaly; MYH9 gene

Indexed keywords

MYOSIN HEAVY CHAIN;

ADULT; ALPORT SYNDROME; ARTICLE; AUTOSOMAL DOMINANT DISORDER; BASOPHIL; CASE REPORT; CHROMOSOME 22Q; CYTOPLASM; DISEASE ASSOCIATION; DISEASE SEVERITY; FAMILY HISTORY; GENOTYPE; HEMODIALYSIS; HUMAN; KIDNEY FAILURE; KIDNEY MALFORMATION; KIDNEY TRANSPLANTATION; LIVING DONOR; MALE; MOLECULAR GENETICS; NEPHRITIS; NEPHROTIC SYNDROME; NEUTROPHIL; PERIPHERAL CIRCULATION; PHENOTYPIC VARIATION; RENOVASCULAR HYPERTENSION; THROMBOCYTE SHAPE; THROMBOCYTOPENIA; DIFFERENTIAL DIAGNOSIS; GENETICS; PEDIGREE; PHENOTYPE;

ADULT; CASE REPORT; DIAGNOSIS, DIFFERENTIAL; GENOTYPE; HUMAN; MALE; NEPHRITIS, HEREDITARY; PEDIGREE; PHENOTYPE; THROMBOCYTOPENIA; HUMANS;

EID: 0035985366     PISSN: 11218428     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (16)

1. Congenital disorders affecting platelets
2. Hereditary macrothrombocytopenia, nephritis and deafness
3. Fechtner syndrome - A variant of Alport's syndrome with leukocyte inclusions and macrothrombocytopenia
4. Sebastian platelet syndrome: A new variant of hereditary macrothrombocytopenia with leukocyte inclusions
5. Genetic linkage of autosomal-dominant Alport syndrome with leukocyte inclusions and macrothrombocytopenia (Fechtner syndrome) to chromosome 22q11-13
6. Localisation of the gene responsible for Fechtner syndrome in a region < 600Kb on 22q11-q13
7. The gene for May-Hegglin anomaly localizes to a < 1-Mb region on chromosome 22q12.3-13.1
8. The May-Hegglin/Fechtner syndrome consortium. Mutations in MYH9 result in the May-Hegglin anomaly and Fechtner and Sebastian syndromes
9. Mutations of MYH9, encoding non-muscle myosin heavy chain A, in May-Hegglin anomaly
10. Expression of the non muscle myosin heavy chain IIA in the human kidney and screening for MYH9 mutations in Epstein and Fechtner syndromes
11. Normal distribution of collagen IV in renal basement membrane in Epstein's syndrome
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13. Autosomal dominant Alport syndrome caused by a COL4A3 splice site mutation
14. Identification of a new mutation in the α4 (IV) collagen gene in a family with autosomal dominant Alport syndrome and hypercholesterolemia
15. Immuno-thrombocytopenia and IgA nephritis
16. Nephropathy in the Wiskott-Aldrich syndrome