Objective:

The presence of mutations in the HNF1β gene is associated with diabetes, renal and genital malformations, as well as electrolyte disorders. The clinical presentation varies with the age of onset of symptoms.

Case presentation:

We report the evolution of two pediatric patients with this entity who began their follow-up due to a renal malformation. As the study continued, more manifestations were added that led to the diagnosis suspicion. Diagnosis was confirmed by molecular study (Multiplex Ligation-dependent Probe Amplification). The first case is an 11-year-old female patient, who was detected prenatally with a multicystic kidney; during her follow-up hypomagnesaemia (4 years old) was identified. During puberty, alterations in the lipid and liver profiles, as well as agenesis of the right ovary were demonstrated. The second case is a 17-year-old male, with a prenatal diagnosis of left pyelocalyceal dilation. At three years of age, a right renal cyst was detected and, at 13 years, diabetes and hepatic steatosis. In both cases, when carrying out a molecular study, a mutation was detected in the HNF1β gene.

Conclusions:

In pediatric age, the search for mutations in the HNF1β gene should be taken into account in patients with renal malformations, who have other clinical manifestations such as diabetes or electrolyte disorders.