De novo HNF4A-associated atypical Fanconi renal tubulopathy syndrome
Journal Publication ResearchOnline@JCUAbstract
[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.
Journal
Journal of Nephrology
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Volume
37
ISBN/ISSN
1724-6059
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Pages Count
7
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Publisher
Springer
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EISSN
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DOI
10.1007/s40620-023-01666-0