ArticleCase reports in nephrology and dialysis
A Case of Hyperinsulinemic Hypoglycaemia Associated with Atypical Fanconi Renal Tubulopathy Syndrome Caused by an HNF4A Variant.
Article in Case reports in nephrology and dialysis. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Introduction: This case illustrates the challenges in the diagnosis of a rare disease with an intricate orientation. The definitive genetic diagnosis was carried out after establishing crucial correlations between the preliminary clinical indications and the laboratory findings. Case Presentation: The initial presentation was myoclonic jerks. This was a direct consequence of hyperinsulinaemic hypoglycaemia (HH), and not a phenotypic characteristic described in previous case reports. Linking this to glycaemia led to the evaluation of response to fasting, where inadequate insulin suppression resulted in hypoketotic hypoglycaemia. The diagnosis of chronic kidney dysfunction associated with atypical Fanconi renal tubulopathy syndrome type 4 (FRTS4) was indicated on the basis of a decreased estimated glomerular filtration rate, nephrocalcinosis, millimetric lithiasis, rickets, and complex proximal tubulopathy. This indicated atypical FRTS4 as associated with HH and necessitated further molecular genetic testing. Conclusion: The patient was identified as a carrier of the c.187C>T (p.Arg63Trp) variant in the
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