Autor(es): Borges, Teresa ; Fortuna, Ana ; Faria, Maria Do Sameiro ; Oliveira, Maria João ; Freitas, Joana ; Santos Silva, Ermelinda ; Quelhas, D ; Figueiredo, Catarina Matos ; Soares, Ana Rita
Data: 2020
Identificador Persistente: http://hdl.handle.net/10400.16/2594
Origem: Repositório Científico da Unidade Local de Saúde de Santo António (ULSSA)
Assunto(s): Hyperinsulinemic hypoglycemia; PMM2 gene; polycystic kidney disease
Co-occurrence of hyperinsulinaemic hypoglycaemia and polycystic kidney disease (HIPKD) has been recently described. It is caused by a non-coding variant in the promoter region for phosphomannomutase 2 (PMM2), c.-167G>T, both in homozygous or compound heterozygous variants with deleterious coding. Although PMM2 has been associated with congenital disorder of glycosylation, patients do not present with this phenotype and have normal carbohydrate-deficient transferring testing. The authors present a rare case where specific PMM2 study was performed as a result of clinical suspicions. The patient was a 6-year-old female followed at our clinic due to congenital hyperinsulinism since she was 1 month old. She also presented with bilateral polycystic kidneys, detected in prenatal set, and simple hepatic cysts, for which she was treated with diazoxide and captopril. Initial metabolic and genetic studies were normal. PMM2 gene sequence study revealed the promotor variant c.-167G>T in compound heterozygosity with the previously described pathogenic variant c.422G>A (p.Arg141His), confirming the diagnosis of HIPKD. This is a notable case as it highlights the importance of keeping this diagnostic hypothesis in mind and serves as a reminder to perform proper clinical and genetic investigation. A correct, and early, diagnosis will avoid unnecessary additional investigations and will allow appropriate genetic counselling for this autosomal recessive disorder.
