HNF4A-related Fanconi syndrome in a Chinese patient: a case report and review of the literature
Author:
Publisher
Springer Science and Business Media LLC
Subject
General Medicine
Link
http://link.springer.com/content/pdf/10.1186/s13256-018-1740-x.pdf
Reference11 articles.
1. Hamilton AJ, Bingham C, McDonald TJ, Cook PR, Caswell RC, Weedon MN, Oram RA, Shields BM, Shepherd M, Inward CD, Hamilton-Shield JP, Kohlhase J, Ellard S, Hattersley AT. The HNF4A R76W mutation causes atypical dominant Fanconi syndrome in addition to a beta cell phenotype. J Med Genet. 2014;51(3):165–9. https://doi.org/10.1136/jmedgenet-2013-102066 .
2. Stanescu DE, Hughes N, Kaplan B, Stanley CA, De Leon DD. Novel presentations of congenital hyperinsulinism due to mutations in the MODY genes: HNF1A and HNF4A. J Clin Endocrinol Metab. 2012;97(10):E2026–30. https://doi.org/10.1210/jc.2012-1356 .
3. Numakura C, Hashimoto Y, Daitsu T, Hayasaka K, Mitsui T, Yorifuji T. Two patients with HNF4A-related congenital hyperinsulinism and renal tubular dysfunction: a clinical variation which includes transient hepatic dysfunction. Diabetes Res Clin Pract. 2015;108(3):e53–5. https://doi.org/10.1016/j.diabres.2015.03.005 .
4. Improda N, Shah P, Guemes M, Gilbert C, Morgan K, Sebire N, Bockenhauer D, Hussain K. Hepatocyte nuclear Factor-4 Alfa mutation associated with Hyperinsulinaemic Hypoglycaemia and atypical renal Fanconi syndrome: expanding the clinical phenotype. Horm Res Paediatr. 2016;86(5):337–41. https://doi.org/10.1159/000446396 .
5. Clemente M, Vargas A, Ariceta G, Martinez R, Campos A, Yeste D. Hyperinsulinaemic hypoglycaemia, renal Fanconi syndrome and liver disease due to a mutation in the HNF4A gene. Endocrinol Diabetes Metab Case Rep. 2017;2017 https://doi.org/10.1530/EDM-16-0133 .
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