Red cell pyruvate kinase deficiency in Spain: A study of 15 cases.

Autor:	Montllor L; Unidad de Eritropatología, Hospital Clínic de Barcelona, Institut D'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, España., Mañú-Pereira MD; Unidad de Eritropatología, Hospital Clínic de Barcelona, Institut D'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, España. Electronic address: mdmanu@clinic.cat., Llaudet-Planas E; Unidad de Eritropatología, Hospital Clínic de Barcelona, Institut D'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, España., Gómez Ramírez P; Unidad de Eritropatología, Hospital Clínic de Barcelona, Institut D'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, España., Sevilla Navarro J; Servicio de Hematología y Hemoterapia, Hospital Infantil Universitario Niño Jesús, Madrid, España., Vives-Corrons JL; Unidad de Eritropatología, Hospital Clínic de Barcelona, Institut D'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, España.
Jazyk:	English; Spanish; Castilian
Zdroj:	Medicina clinica [Med Clin (Barc)] 2017 Jan 06; Vol. 148 (1), pp. 23-27. Date of Electronic Publication: 2016 Nov 19.
DOI:	10.1016/j.medcli.2016.10.004
Abstrakt:	Background and Objective: Pyruvate kinase deficiency (PKD) is a rare, inherited disease causing chronic hemolysis and anemia of varying intensity. The genetic heterogeneity of PKD is high and, to this day, over 240 different mutations have been identified. Patients and Methods: 15 unrelated patients affected by PKD have been studied. PKLR gene sequencing was performed by SANGER, including the determination of promoter regions, exonic, intronic flanking and 3'UTR. Results: Patients were classified into 3 groups based on the intensity of their clinical symptoms: I) severe and very severe (8 patients); II) moderate (2 patients), and III) mild (5 patients). Six out of the 18 alleles found were new mutations which had not been described previously, with the PKLR c.721G>T mutation being the most prevalent (26.67%), followed by the PKLR c.1456C>T mutation (13.33%). Conclusions: In Spain, the genetic heterogeneity of PKLR is still high but differs from that observed in the previous study carried out in 1998. Total PKLR gene sequencing is necessary for the characterization of all patients with PKD and for genetic counseling. (Copyright © 2016 Elsevier España, S.L.U. All rights reserved.)
Databáze:	MEDLINE
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