| Autor: |
Price Evans DA; Department of Medicine, C123 Riyadh Military Hospital, PO Box 7897, Riyadh 11159, Kingdom of Saudi Arabia, and Department of Medical Laboratory Services & Technology, Huddinge University Hospital, Sweden. daperkh@hotmail.com, Salah KA, Mobrad MA, Mitchell WD, Olin M, Eggertsen G |
| Jazyk: |
angličtina |
| Zdroj: |
Saudi medical journal [Saudi Med J] 2007 Jul; Vol. 28 (7), pp. 1113-8. |
| Abstrakt: |
A Saudi Arabian family is described in which there were 2 siblings with typical features of cerebral xanthomatosis CTX including premature cataracts, xanthomata of the Achilles tendons, neuro-psychiatric disturbances, and atherosclerosis. The 2 patients were homozygous for a point mutation in the mitochondrial 27-hydroxylase gene CYP27A1, OMIM 606530 located in the splice site of intron 6, where G was exchanged for A IVS6+1G>A. Their parents were cousins, 5 siblings were healthy, 2 were heterozygous for the mutation, and one showed the wild-type genotype. The father was heterozygous for the mutation, while the other family members were not tested. The progress of the 2 CTX patients over 14 years is described; firstly when they were receiving treatment with chenodeoxycholic acid; when this medication was not available, and later when it was restored. A hereditary hyperlipidemia was also present in this family. It is suggested that when this occurs with CTX, a more serious illness results that merits more aggressive dual therapy. |
| Databáze: |
MEDLINE |
| Externí odkaz: |
|
