Anderson-Fabry disease: clinical manifestations of disease in female heterozygotes
| Autor: | S. Bunge, Catharina Whybra, Bryan Winchester, K. Brühl, C. Kampmann, Jörg Kriegsmann, Mathias Beck, Jessica Davies, I. Willers, Andreas Gal |
|---|---|
| Rok vydání: | 2002 |
| Předmět: |
Adult
Male Pathology medicine.medical_specialty Heterozygote X Chromosome Lipid storage disorder Adolescent Heart Diseases Gastrointestinal Diseases Physical examination Disease Asymptomatic Glycosphingolipids Genetics medicine Humans Paresthesia Child Genetics (clinical) Cause of death medicine.diagnostic_test Vascular disease business.industry medicine.disease Fabry disease Dermatology Angiokeratoma Cerebrovascular Disorders Child Preschool Blood Vessels Fabry Disease Female Kidney Diseases medicine.symptom business |
| Zdroj: | Journal of inherited metabolic disease. 24(7) |
| ISSN: | 0141-8955 |
| Popis: | Anderson-Fabry disease is a rare, X-chromosomal lipid storage disorder caused by a deficiency of lysosomal alpha-galactosidase A. Clinical manifestations of Anderson-Fabry disease include excruciating pain in the extremities (acroparaesthesia), skin vessel ectasia (angiokeratoma), corneal and lenticular opacity, cardiovascular disease, stroke and renal failure, only renal failure being a frequent cause of death. Heterozygote female carriers have often been reported as being asymptomatic or having an attenuated form of the disease. To evaluate the spectrum of clinical signs in heterozygotes, a comprehensive clinical examination was performed on 20 carriers of Anderson-Fabry disease. This revealed that, in addition to the skin manifestation, various other clinical manifestations of the disease are present, including acroparaesthesia, kidney dysfunction, cerebrovascular disease, and gastrointestinal and heart problems. It therefore appears that Anderson-Fabry disease affects both hemizygotes and heterozyotes and therefore should be considered to be an X-linked dominant disease. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|
Full text from SpringerLink