دورية أكاديمية
أعرض في EDS

Adenine phosphoribosyl transferase (APRT) deficiency and a novel sequence variant in APRT with phenotypic diversity and a literature review.

التفاصيل البيبلوغرافية
العنوان: Adenine phosphoribosyl transferase (APRT) deficiency and a novel sequence variant in APRT with phenotypic diversity and a literature review.
المؤلفون: Leow EH; Nephrology Service, Department of Paediatrics, KK Women's and Children's Hospital, Singapore, Singapore., Chong SL; Nephrology Service, Department of Paediatrics, KK Women's and Children's Hospital, Singapore, Singapore., Tan ES; Genetics Service, Department of Paediatrics, KK Women's and Children's Hospital, Singapore, Singapore., Koh AL; Genetics Service, Department of Paediatrics, KK Women's and Children's Hospital, Singapore, Singapore., Cham BWM; Genetics Service, Department of Paediatrics, KK Women's and Children's Hospital, Singapore, Singapore., Yap CJY; Nephrology Service, Department of Paediatrics, KK Women's and Children's Hospital, Singapore, Singapore., Ng YH; Nephrology Service, Department of Paediatrics, KK Women's and Children's Hospital, Singapore, Singapore.
المصدر: Nephrology (Carlton, Vic.) [Nephrology (Carlton)] 2023 Dec; Vol. 28 (12), pp. 649-654. Date of Electronic Publication: 2023 Aug 24.
نوع المنشور: Case Reports; Journal Article; Review
اللغة: English
بيانات الدورية: Publisher: Blackwell Science Country of Publication: Australia NLM ID: 9615568 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1440-1797 (Electronic) Linking ISSN: 13205358 NLM ISO Abbreviation: Nephrology (Carlton) Subsets: MEDLINE
أسماء مطبوعة: Original Publication: Carlton, Vic., Australia : Blackwell Science,
مواضيع طبية MeSH: Microscopy* , Urolithiasis*/diagnosis , Urolithiasis*/genetics, Child ; Humans ; Male ; Adenine/therapeutic use ; Adenine/urine ; Adenine Phosphoribosyltransferase/genetics ; Adenine Phosphoribosyltransferase/urine ; Urinalysis
مستخلص: Adenine phosphoribosyl transferase (APRT) deficiency is an autosomal recessive disorder and a rare cause of urolithiasis due to mutations in APRT (OMIM #102600). APRT deficiency results in increased urinary excretion of 2,8-dihydroxyadenine (DHA) which can cause urolithiasis and kidney failure. However, with prompt diagnosis, patients with APRT deficiency can be treated with xanthine oxidoreductase inhibitors which decrease urinary DHA excretion and improve outcomes. We report a pair of siblings, an 11-year-old brother and his 14-year-old sister with compound heterozygous variants c.270del (p.Lys91Serfs*46) and c.484_486del (p.Leu162del) in APRT with variable clinical presentation of APRT deficiency. The brother presented at 17 months of age with urolithiasis and severe acute kidney injury. His elder sister remained well and asymptomatic with normal kidney function and did not develop renal calculi. Brownish disk or sphere-like crystals with both concentric and radial markings were reported on urine microscopy in the sister on screening. The sister's diagnosis was confirmed with further laboratory evidence of absent red cell lysate APRT activity with corresponding elevated levels of urinary DHA. In conclusion, we identified a novel mutation in the APRT gene in a pair of siblings with greater phenotypic severity in the male.
(© 2023 Asian Pacific Society of Nephrology.)
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فهرسة مساهمة: Keywords: genetics; obstructive nephropathy; paediatric nephrology; urolithiasis
المشرفين على المادة: JAC85A2161 (Adenine)
EC 2.4.2.7 (Adenine Phosphoribosyltransferase)
SCR Disease Name: Adenine phosphoribosyltransferase deficiency
تواريخ الأحداث: Date Created: 20230824 Date Completed: 20231113 Latest Revision: 20231113
رمز التحديث: 20240628
DOI: 10.1111/nep.14232
PMID: 37619970
قاعدة البيانات: MEDLINE
الوصف
تدمد:1440-1797
DOI:10.1111/nep.14232