Open AccessWILSON DISEASE
Author(s) -
Hina Ayesha,
AAMIR ALI CHOUDHRY,
MUHAMMED ASGHAR BUTT
Publication year - 2005
Publication title -
the professional medical journal/the professional medical journal
Language(s) - English
Resource type - Journals
eISSN - 2071-7733
pISSN - 1024-8919
DOI - 10.29309/tpmj/2005.12.04.5098
Subject(s) - medicine , asymptomatic , hepatosplenomegaly , genotype , disease , asymptomatic carrier , pediatrics , genotype phenotype distinction , genetic testing , compound heterozygosity , chronic liver disease , mutation , genetics , cirrhosis , biology , gene
Objectives: 1). To study the genotypic differences, if any, betweenPakistani children suffering from Wilson’s disease from those in the west and to correlate phenotype with genotype. 2).To find out the most frequent mutations present in our patients and screen out asymptomatic siblings of the index cases.Setting: Department of Pediatrics, Allied Hospital, Punjab Medical College, Faisalabad. Duration: May 1997 to June2005. Materials and methods: 41 patients ranging from 5-18 years were diagnosed based on clinical and laboratorydata. 13 patients and 6 asymptomatic siblings along with their parents were subjected to mutation analysis. at Universityof Vienna, Austria. Results: None of the patients had His1069Gln, the commonest European mutation. R969Q andI1102T detected in our patients have previously been described. Four novel mutations were found. Asymptomaticsiblings screened were either heterozygote or normal. R969Q appears to be associated with sub-acute liver diseasewith hepatosplenomegaly. I1102T was seen in children with chronic liver disease and L1071W, C1079Y and E583R-fs(insA) with early onset of neurological disease. Conclusion: Our Patients are phenotypicaly as well as genotypicalydifferent. Different genotype could be responsible for the phenotype. Further studies are needed with a larger samplesize so that molecular genetic tests be devised for early diagnosis and family screening.