A Case of Hyperinsulinemic Hypoglycaemia Associated with Atypical Fanconi Renal Tubulopathy Syndrome Caused by an HNF4A Variant.

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

SUBMITTER: Garriga-Edo S 

PROVIDER: S-EPMC12757114 | biostudies-literature | 2026 Jan-Dec

REPOSITORIES: biostudies-literature