De novo HNF4A-associated atypical Fanconi renal tubulopathy syndrome
Hudson, Rebecca, Abeysekera, Natasha, Wolski, Penny, Simons, Cas, Francis, Leo, Farnsworth, Elizabeth, Bennetts, Bruce, Patel, Chirag, Spijker, Siebe, and Mallett, Andrew (2024) De novo HNF4A-associated atypical Fanconi renal tubulopathy syndrome. Journal of Nephrology, 37. pp. 191-197.
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Abstract
[Extract] A 10-year-old male presented with hypophosphataemic rickets requiring subsequent multi-level orthopaedic procedures, Fanconi renotubulopathy (hypophosphataemia, phosphaturia, glycosuria and aminoaciduria in the absence of renal tubular acidosis and hypouricaemia) and progressive chronic kidney disease with bland urinary sediment and albuminuria (24 mg/mmol). He experienced hypocalcaemia in the absence of hypercalciuria, though his other serum and urine electrolytes were unremarkable (Stable 1). In addition to a past history of a surgically repaired ventricular septal defect (VSD) at 5 years, he suffered growth delay refractory to growth hormone therapy. This was complicated by hyperglycaemia at 15 years, which improved upon cessation of growth hormone therapy (normal fasting glucose 5.1 mmol/L and HbA1c 5.2%) but intermittent hyperglycaemia persisted. His development was otherwise normal. Notably, he was not macrosomic at birth nor suffered neonatal hyperinsulinism.
| Item ID: | 79212 |
|---|---|
| Item Type: | Article (Research - C1) |
| ISSN: | 1724-6059 |
| Keywords: | Atypical Fanconi Renal Tubulopathy Syndrome, De novo monogenic rare disease, HNF4A, Tubulopathy |
| Copyright Information: | This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/. |
| Date Deposited: | 10 Jan 2024 01:57 |
| FoR Codes: | 32 BIOMEDICAL AND CLINICAL SCIENCES > 3202 Clinical sciences > 320214 Nephrology and urology @ 100% |
| SEO Codes: | 20 HEALTH > 2001 Clinical health > 200101 Diagnosis of human diseases and conditions @ 100% |
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