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Hyperinsulinaemic Hypoglycaemia and Polycystic Kidney Disease – A Rare Case Concerning PMM2 Gene Pleiotropy

2020Journal article Open access
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dc.contributor.authorBorges, Teresa
dc.contributor.authorFortuna, Ana
dc.contributor.authorFaria, Maria Do Sameiro
dc.contributor.authorOliveira, Maria João
dc.contributor.authorFreitas, Joana
dc.contributor.authorSantos Silva, Ermelinda
dc.contributor.authorQuelhas, D
dc.contributor.authorFigueiredo, Catarina Matos
dc.contributor.authorSoares, Ana Rita
dc.date.accessioned2021-11-22T14:07:55Z
dc.date.available2021-11-22T14:07:55Z
dc.date.issued2020
dc.description.abstractCo-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.pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationSoares AR, Figueiredo CM, Quelhas D, et al. Hyperinsulinaemic Hypoglycaemia and Polycystic Kidney Disease - A Rare Case Concerning PMM2 Gene Pleiotropy. Eur Endocrinol. 2020;16(1):66-68. doi:10.17925/EE.2020.16.1.66pt_PT
dc.identifier.doi10.17925/EE.2020.16.1.66pt_PT
dc.identifier.issn1758-3780
dc.identifier.issn1758-3772
dc.identifier.urihttp://hdl.handle.net/10400.16/2594
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherTouch Medical Mediapt_PT
dc.relation.publisherversionhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC7308104/pt_PT
dc.subjectHyperinsulinemic hypoglycemiapt_PT
dc.subjectPMM2 genept_PT
dc.subjectpolycystic kidney diseasept_PT
dc.titleHyperinsulinaemic Hypoglycaemia and Polycystic Kidney Disease – A Rare Case Concerning PMM2 Gene Pleiotropypt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.citation.conferencePlaceEnglandpt_PT
oaire.citation.endPage68pt_PT
oaire.citation.issue1pt_PT
oaire.citation.startPage66pt_PT
oaire.citation.titleEuropean Endocrinologypt_PT
oaire.citation.volume16pt_PT
person.familyNameFortuna
person.familyNameFaria
person.familyNameSantos Silva
person.familyNameQuelhas
person.familyNameSoares
person.givenNameAna
person.givenNameMaria do Sameiro
person.givenNameErmelinda
person.givenNameDulce
person.givenNameAna Rita
person.identifier702094
person.identifier.ciencia-idCD12-BF24-65FE
person.identifier.ciencia-id7010-0876-5066
person.identifier.ciencia-id921C-8052-6FC5
person.identifier.orcid0000-0002-1296-5366
person.identifier.orcid0000-0002-8061-9289
person.identifier.orcid0000-0002-0987-341X
person.identifier.orcid0000-0001-9989-9236
person.identifier.orcid0000-0001-7817-9889
person.identifier.ridT-2673-2018
person.identifier.scopus-author-id35974338400
person.identifier.scopus-author-id6507433703
person.identifier.scopus-author-id56367330200
person.identifier.scopus-author-id6507796178
rcaap.rightsopenAccesspt_PT
rcaap.typearticlept_PT
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