Influencia del síndrome de Gilbert en los valores de bilirrubina sérica y presencia de litiasis vesicular en pacientes con hemólisis crónica congénita

We describe the molecular study in a cohort of 120 Portuguese patients with the clinical diagnosis of Gilbert syndrome and in one with the diagnosis of Crigler -Najjar syndrome type II, as well as a prenatal diagnosis of Crigler -Najjar syndrome type I. Among the 120 unrelated patients with Gilbert syndrome, 110 were homozygous for the [TA] . Additional studies in these 9 patients revealed heterozygosity for the c.674T>G, c.488 _ 491dupACCT and c.923G>A mutations, in 1, 1 and 4 patients, respectively. The patient with Crigler -Najjar syndrome type II was a compound heterozygote for [TA]7 and the c.923G>A mutation. The undocumented polymorphisms c.-1126C>T and c.997-82T>C were also detected in the course of this study. Prenatal diagnosis in a family with a boy previously diagnosed as Crigler -Najjar syndrome type I and homozygosity for the c.923G>A mutation revealed that the fetus was unaffected.Homozygosity for the [TA] insertion was found to be the most frequent cause of GS in our population. Identification of further mutations in the UGT1A1 gene was also seen to contribute significantly towards diagnosis. D

show abstract

Analysis of the UDP-glucuronosyltransferase gene in Portuguese patients with a clinical diagnosis of Gilbert and Crigler–Najjar syndromes

Costa

Vieira

Martins

et al. 2006

Blood Cells, Molecules, and Diseases

View full text Add to dashboard Cite

show abstract

A New Case of (Ta)8 Allele in the Ugt1a1 Gene Promoter in a Caucasian Girl With Gilbert’ Syndrome

Coelho

Costa

Vieira

et al. 2004

Pediatric Hematology and Oncology

View full text Add to dashboard Cite

Coexistence of congenital red cell pyruvate kinase and band 3 deficiency

et al. 2004

Self Cite

View full text Add to dashboard Cite

SummaryThe authors report the case of a 9-year-old Caucasian girl, born in northern Portugal, with chronic nonspherocytic haemolytic anaemia and without family history of anaemia. The aethiological study of this anaemia revealed pyruvate kinase deficiency (PKD), because of two previously described mutations (426Arg fi Trp and 510Arg fi Gln). Since the blood smear revealed features not fully compatible with PKD diagnosis, additional tests were performed for the propositus and her parents, namely red blood cell membrane protein analysis. A decrease in proteins band 3 (15%) and 4.2 (18%) was found in the propositus. Her father presented only a decrease in band 3 (11%). Coexistence of PKD and erythrocyte membrane proteins deficiency in the same patient is very uncommon. Our findings suggest that a careful blood smear observation may lead to the identification of a combined deficiency in erythrocyte membrane proteins and enzymopathies.

show abstract

scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.

Contact Info

customersupport@researchsolutions.com

10624 S. Eastern Ave., Ste. A-614

Henderson, NV 89052, USA

This site is protected by reCAPTCHA and the Google Privacy Policy and Terms of Service apply.

Blog Terms and Conditions API Terms Privacy Policy Contact Cookie Preferences Do Not Sell or Share My Personal Information

Made with 💙 for researchers

Part of the Research Solutions Family.

Influencia del síndrome de Gilbert en los valores de bilirrubina sérica y presencia de litiasis vesicular en pacientes con hemólisis crónica congénita

Cited by 3 publications

References 12 publications

Analysis of the UDP-glucuronosyltransferase gene in Portuguese patients with a clinical diagnosis of Gilbert and Crigler–Najjar syndromes

Analysis of the UDP-glucuronosyltransferase gene in Portuguese patients with a clinical diagnosis of Gilbert and Crigler–Najjar syndromes

A New Case of (Ta)8 Allele in the Ugt1a1 Gene Promoter in a Caucasian Girl With Gilbert’ Syndrome

Coexistence of congenital red cell pyruvate kinase and band 3 deficiency

Contact Info

Product

Resources

About