Alport’s Syndrome Associated with Macrothrombopathic Thrombocytopenia

Clare, Nanette; Montiel, Milka M.; Lifschitz, Meyer D.; Bannayan, George A.

doi:10.1093/ajcp/72.1.111

Cited by 41 publications

(13 citation statements)

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“…In 1972, a family was described in which hereditary nephritis segregated with deafness and megathrombocytopenia, and reports of several similar families have subsequently appeared [112][113][114][115][116][117][118]. In most of the families described, the disorder appears to have been transmitted as an autosomal dominant trait.…”

Section: Hematological Abnormalitiesmentioning

confidence: 99%

Alport syndromes: phenotypic heterogeneity of progressive hereditary nephritis

Kashtan

2000

Pediatric Nephrology

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Alport syndrome is a primary genetic disease of basement membranes, manifested clinically as a progressive nephropathy variably associated with sensorineural deafness and a plethora of ocular abnormalities. The long-recognized phenotypic heterogeneity of Alport syndrome may be considered on several levels, including basement membrane biochemistry, basement membrane ultrastructure, the natural history of the nephropathy, and the occurrence of extrarenal abnormalities. This review discusses the possible molecular bases for the heterogeneity. The discussion draws upon recent insights into the molecular genetics of Alport syndrome, and the biochemistry of normal and Alport syndrome basement membranes, in order to provide a framework for understanding the variable renal and extrarenal manifestations of the disease.

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Section: Hematological Abnormalitiesmentioning

confidence: 99%

Alport syndromes: phenotypic heterogeneity of progressive hereditary nephritis

Kashtan

2000

Pediatric Nephrology

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“…A literature search retrieved nine publications on Fechtner syndrome [7,13,15,16,20,24,26,27,31] and seven on Sebastian syndrome [9,10,14,22,23,30,31]. There are some additional reports on patients with thrombocytopenia and nephritis [2,3,4,5,6,11,21], but these patients either lacked the typical leukocyte inclusions [2,4,5,6,11,21] or they had no hearing problems [3].…”

Section: Discussionmentioning

confidence: 99%

Perioperative management of a patient with Fechtner syndrome

Malzahn

et al. 2001

Ann Hematol

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Fechtner syndrome is a rare type of familial thrombocytopenia associated with large platelets, leukocyte inclusions, and features of Alport's syndrome. The bleeding tendency is usually mild, but severe hemorrhages have been reported. This is the case of a patient with Fechtner syndrome who was scheduled to undergo tonsillectomy. The patient had a history of easy bruising in childhood and a markedly prolonged bleeding time. Administration of DDAVP led to normalization of the bleeding time, and the patient underwent surgery without complications. With this approach the use of platelet concentrates could be avoided.

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“…In early kidney disease, light microscopic findings may be limited to mesangial expansion [28,39,40]. In late-stage disease, changes are non-specific.…”

Section: Disorders Of the Podocyte Cytoskeletonmentioning

confidence: 99%

“…In late-stage disease, changes are non-specific. Electron microscopic findings are also variable, with reports of normal GBM ultrastructure, focal GBM thinning and thickening with splitting [32,36,37,39,40,41,42], generally with foot process effacement. GBM changes have been deemed suggestive of Alport syndrome [31].…”

Section: Disorders Of the Podocyte Cytoskeletonmentioning

confidence: 99%

Genetic Disorders of Glomerular Basement Membranes

Kashtan

Segal

2010

Nephron Clin Pract

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This review provides current information about glomerular disorders that arise directly from inherited abnormalities in extracellular matrix proteins intrinsic to the glomerular basement membrane (Alport syndrome, thin basement membrane nephropathy, HANAC syndrome and Pierson syndrome). The authors also discuss disorders involving genetic defects in cellular proteins that result in structural defects in glomerular basement membranes (MYH9-related disorders, nail-patella syndrome).

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Alport’s Syndrome Associated with Macrothrombopathic Thrombocytopenia

Cited by 41 publications

References 0 publications

Alport syndromes: phenotypic heterogeneity of progressive hereditary nephritis

Alport syndromes: phenotypic heterogeneity of progressive hereditary nephritis

Perioperative management of a patient with Fechtner syndrome

Genetic Disorders of Glomerular Basement Membranes

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