학술논문
Clinical presentation of 13 children with alkaptonuria.
Document Type
Academic Journal
Author
Kujawa MJ; 2nd Department of Radiology, Medical University of Gdansk, Gdansk, Poland.; Świętoń D; 2nd Department of Radiology, Medical University of Gdansk, Gdansk, Poland.; Wierzba J; Department of Pediatrics, Medical University of Gdansk, Gdansk, Poland.; Department of Rare Disorders, Medical University of Gdansk, Gdansk, Poland.; Department of Internal Medicine Nursing, Medical University of Gdansk, Gdansk, Poland.; Grzywińska M; Department of Neurophysiology, Neuropsychology, and Neuroinformatics, Neuroinformatics and Artificial Intelligence Lab, Gdansk, Poland.; Budziło O; Department of Pediatrics, Medical University of Gdansk, Gdansk, Poland.; Limanówka M; Department of Pediatrics, Medical University of Gdansk, Gdansk, Poland.; Pierzynowska K; Department of Molecular Biology, Faculty of Biology, University of Gdansk, Gdansk, Poland.; Gaffke L; Department of Molecular Biology, Faculty of Biology, University of Gdansk, Gdansk, Poland.; Grabowski Ł; Institute of Biochemistry and Biophysics, Polish Academy of Sciences, Warsaw, Poland.; Cyske Z; Department of Molecular Biology, Faculty of Biology, University of Gdansk, Gdansk, Poland.; Rintz E; Department of Molecular Biology, Faculty of Biology, University of Gdansk, Gdansk, Poland.; Rąbalski Ł; Biological Threats Identification and Countermeasure Centre, Military Institute of Hygiene and Epidemiology, Puławy, Poland.; Laboratory of Recombinant Vaccines, Intercollegiate Faculty of Biotechnology UG and MUG, Gdansk, Poland.; Kosiński M; Laboratory of Recombinant Vaccines, Intercollegiate Faculty of Biotechnology UG and MUG, Gdansk, Poland.; Vaxican LLC, Gdansk, Poland.; Węgrzyn G; Department of Molecular Biology, Faculty of Biology, University of Gdansk, Gdansk, Poland.; Mański A; Psychological Counselling Centre of Rare Genetic Diseases, Institute of Psychology, University of Gdansk, Gdansk, Poland.; Anikiej-Wiczenbach P; Psychological Counselling Centre of Rare Genetic Diseases, Institute of Psychology, University of Gdansk, Gdansk, Poland.; Ranganath L; Departments of Clinical Biochemistry and Metabolic Medicine, Liverpool University Hospitals NHS Foundation Trusts, Liverpool, UK.; Department of Musculoskeletal & Ageing Science, Institute of Life Course & Medical Sciences, University of Liverpool, Liverpool, UK.; Piskunowicz M; Department of Radiology, Medical University of Gdansk, Gdansk, Poland.
Source
Publisher: Wiley Country of Publication: United States NLM ID: 7910918 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-2665 (Electronic) Linking ISSN: 01418955 NLM ISO Abbreviation: J Inherit Metab Dis Subsets: MEDLINE
Subject
Language
English
Abstract
Until now, only a few studies have focused on the early onset of symptoms of alkaptonuria (AKU) in the pediatric population. This prospective, longitudinal study is a comprehensive approach to the assessment of children with recognized AKU during childhood. The study includes data from 32 visits of 13 patients (five males, eight females; age 4-17 years) with AKU. A clinical evaluation was performed with particular attention to eye, ear, and skin pigmentation, musculoskeletal complaints, magnetic resonance imaging (MRI), and ultrasound (US) imaging abnormalities. The cognitive functioning and adaptive abilities were examined. Molecular genetic analyses were performed. The most common symptoms observed were dark urine (13/13), followed by joint pain (6/13), and dark ear wax (6/13). In 4 of 13 patients the values obtained in the KOOS-child questionnaire were below the reference values. MRI and US did not show degenerative changes in knee cartilages. One child had nephrolithiasis. Almost half of the children with AKU (5/13) presented deficits in cognitive functioning and/or adaptive abilities. The most frequent HGD variants observed in the patients were c.481G>A (p.Gly161Arg) mutation and the c.240A>T (p.His80Gln) polymorphism. The newly described allele of the HGD gene (c.948G>T, p.Val316Phe) which is potentially pathogenic was identified.
(© 2023 SSIEM.)
(© 2023 SSIEM.)