Hyperinsulinaemic Hypoglycaemia and Polycystic Kidney Disease – A Rare Case Concerning PMM2 Gene Pleiotropy
| Autor: | Teresa Borges, Sameiro Faria, Ana Soares, Maria João Oliveira, Ana Maria Fortuna, Ermelinda Santos Silva, Dulce Quelhas, Joana Isabel Ricardo Gaspar Freitas, Catarina Matos de Figueiredo |
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| Jazyk: | angličtina |
| Rok vydání: | 2020 |
| Předmět: |
polycystic kidney disease
Endocrine and Autonomic Systems business.industry Endocrinology Diabetes and Metabolism Genetic counseling Hyperinsulinemic hypoglycemia Diabetes 030209 endocrinology & metabolism 030204 cardiovascular system & hematology Compound heterozygosity medicine.disease medicine.disease_cause Bioinformatics 03 medical and health sciences 0302 clinical medicine Endocrinology Pleiotropy Polycystic kidney disease Congenital hyperinsulinism Medicine business PMM2 gene Congenital disorder of glycosylation Phosphomannomutase |
| Zdroj: | Repositório Científico de Acesso Aberto de Portugal Repositório Científico de Acesso Aberto de Portugal (RCAAP) instacron:RCAAP Eur Endocrinol |
| Popis: | 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. info:eu-repo/semantics/publishedVersion |
| Databáze: | OpenAIRE |
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