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The Elusive Nature of ABCC8-related Maturity-Onset Diabetes of the Young (ABCC8-MODY). A Review of the Literature and Case Discussion.
Marassi, Marella; Morieri, Mario Luca; Sanga, Viola; Ceolotto, Giulio; Avogaro, Angelo; Fadini, Gian Paolo.
Afiliação
  • Marassi M; Department of Medicine, University of Padova, Via Giustiniani 2, Padua, 35100, Italy.
  • Morieri ML; Department of Medicine, University of Padova, Via Giustiniani 2, Padua, 35100, Italy.
  • Sanga V; Department of Medicine, University of Padova, Via Giustiniani 2, Padua, 35100, Italy.
  • Ceolotto G; Department of Medicine, University of Padova, Via Giustiniani 2, Padua, 35100, Italy.
  • Avogaro A; Department of Medicine, University of Padova, Via Giustiniani 2, Padua, 35100, Italy.
  • Fadini GP; Department of Medicine, University of Padova, Via Giustiniani 2, Padua, 35100, Italy. gianpaolo.fadini@unipd.it.
Curr Diab Rep ; 24(9): 197-206, 2024 Sep.
Article em En | MEDLINE | ID: mdl-38980630
ABSTRACT
PURPOSE OF REVIEW Maturity-onset diabetes of the young (MODY) are monogenic forms of diabetes resulting from genetic defects, usually transmitted in an autosomal dominant fashion, leading to ß-cell dysfunction. Due to the lack of homogeneous clinical features and univocal diagnostic criteria, MODY is often misdiagnosed as type 1 or type 2 diabetes, hence its diagnosis relies mostly on genetic testing. Fourteen subtypes of MODY have been described to date. Here, we review ABCC8-MODY pathophysiology, genetic and clinical features, and current therapeutic options. RECENT

FINDINGS:

ABCC8-MODY is caused by mutations in the adenosine triphosphate (ATP)-binding cassette transporter subfamily C member 8 (ABCC8) gene, involved in the regulation of insulin secretion. The complexity of ABCC8-MODY genetic picture is mirrored by a variety of clinical manifestations, encompassing a wide spectrum of disease severity. Such inconsistency of genotype-phenotype correlation has not been fully understood. A correct diagnosis is crucial for the choice of adequate treatment and outcome improvement. By targeting the defective gene product, sulfonylureas are the preferred medications in ABCC8-MODY, although efficacy vary substantially. We illustrate three case reports in whom a diagnosis of ABCC8-MODY was suspected after the identification of novel ABCC8 variants that turned out to be of unknown significance. We discuss that careful interpretation of genetic testing is needed even on the background of a suggestive clinical context. We highlight the need for further research to unravel ABCC8-MODY disease mechanisms, as well as to clarify the pathogenicity of identified ABCC8 variants and their influence on clinical presentation and response to therapy.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Diabetes Mellitus Tipo 2 / Receptores de Sulfonilureias Limite: Adult / Female / Humans / Male Idioma: En Ano de publicação: 2024 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Diabetes Mellitus Tipo 2 / Receptores de Sulfonilureias Limite: Adult / Female / Humans / Male Idioma: En Ano de publicação: 2024 Tipo de documento: Article