Медицинская библиотека · British journal of haematology · 2024

Pyruvate kinase deficiency in 29 Turkish patients with two novel intronic variants.

Gök Veysel, Leblebisatan Göksel, Gürlek Gökçebay Dilek, Güler Salih, Doğan Muhammet Ensar, Tuğ Bozdoğan Sevcan, Koca Yozgat Ayça, Özcan Alper, Pekpak Şahinoğlu Esra, Tokgöz Hüseyin, Çil Metin, Özemri Sağ Şebnem, Yilmaz Ebru, Şaşmaz Hatice İlgen, Evim Melike Sezgin, Akbayram Sinan, Karadoğan Meriban, Mutlu Fatma Türkan, Boğa İbrahim, Yeter Doğan Burcu, Yarali Neşe, Çalişkan Ümran, Bişgin Atil, Temel Şehime Gülsün, Proven Melanie, Gibson Kate, Demir Büşra Şeniz, Saraçoğlu Hatice, Eken Ahmet, Karakükçü Çiğdem, Karakükçü Musa, Güneş Adalet Meral, Özbek Namık Yaşar, Kilinç Yurdanur, Patiroğlu Türkan, Özdemir Mehmet Akif, Roy Noemi B A, Ünal Ekrem

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Аннотация

Pyruvate kinase (PK) is a key enzyme of anaerobic glycolysis. The genetic heterogeneity of PK deficiency (PKD) is high, and over 400 unique variants have been identified. Twenty-nine patients who had been diagnosed as PKD genetically in seven distinct paediatric haematology departments were evaluated. Fifteen of 23 patients (65.2%) had low PK levels. The PK:hexokinase ratio had 100% sensitivity for PKD diagnosis, superior to PK enzyme assay. Two novel intronic variants (c.695-1G>A and c.694+43C>T) have been described. PKD should be suspected in patients with chronic non-spherocytic haemolytic anaemia, even if enzyme levels are falsely normal. Total PKLR gene sequencing is necessary for the characterization of patients with PKD and for genetic counselling.

Для цитирования: Gök Veysel, Leblebisatan Göksel, Gürlek Gökçebay Dilek, Güler Salih, Doğan Muhammet Ensar, Tuğ Bozdoğan Sevcan, Koca Yozgat Ayça, Özcan Alper, Pekpak Şahinoğlu Esra, Tokgöz Hüseyin, Çil Metin, Özemri Sağ Şebnem, Yilmaz Ebru, Şaşmaz Hatice İlgen, Evim Melike Sezgin, Akbayram Sinan, Karadoğan Meriban, Mutlu Fatma Türkan, Boğa İbrahim, Yeter Doğan Burcu, Yarali Neşe, Çalişkan Ümran, Bişgin Atil, Temel Şehime Gülsün, Proven Melanie, Gibson Kate, Demir Büşra Şeniz, Saraçoğlu Hatice, Eken Ahmet, Karakükçü Çiğdem, Karakükçü Musa, Güneş Adalet Meral, Özbek Namık Yaşar, Kilinç Yurdanur, Patiroğlu Türkan, Özdemir Mehmet Akif, Roy Noemi B A, Ünal Ekrem. Pyruvate kinase deficiency in 29 Turkish patients with two novel intronic variants.. British journal of haematology. 2024. DOI: 10.1111/bjh.19575.

Предметные рубрики MeSH

Humans Pyruvate Kinase Male Female Pyruvate Metabolism, Inborn Errors Child Child, Preschool Anemia, Hemolytic, Congenital Nonspherocytic Introns Turkey Infant Adolescent Mutation

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