The Journal of clinical endocrinology and metabolism · 2017
Monogenic Diabetes Accounts for 6.3% of Cases Referred to 15 Italian Pediatric Diabetes Centers During 2007 to 2012.
СтатьяНазвание и аннотация: Перевод в очереди
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Delvecchio Maurizio, Mozzillo Enza, Salzano Giuseppina, Iafusco Dario, Frontino Giulio, Patera Patrizia I, Rabbone Ivana, Cherubini Valentino, Grasso Valeria, Tinto Nadia, Giglio Sabrina, Contreas Giovanna, Di Paola Rosa, Salina Alessandro, Cauvin Vittoria, Tumini Stefano, d'Annunzio Giuseppe, Iughetti Lorenzo, Mantovani Vilma, Maltoni Giulio, Toni Sonia, Marigliano Marco, Barbetti Fabrizio, Diabetes Study Group of the Italian Society of Pediatric Endocrinology and Diabetes (ISPED)
Аннотация
CONTEXT: An etiologic diagnosis of diabetes can affect the therapeutic strategy and prognosis of chronic complications.
OBJECTIVE: The aim of the present study was to establish the relative percentage of different diabetes subtypes in patients attending Italian pediatric diabetes centers and the influence of an etiologic diagnosis on therapy.
DESIGN, SETTING, AND PATIENTS: This was a retrospective study. The clinical records of 3781 consecutive patients (age, 0 to 18 years) referred to 15 pediatric diabetes clinics with a diagnosis of diabetes or impaired fasting glucose from January 1, 2007 to December 31, 2012 were examined. The clinical characteristics of the patients at their first referral to the centers, type 1 diabetes-related autoantibodies, molecular genetics records, and C-peptide measurements, if requested for the etiologic diagnosis, were acquired.
MAIN OUTCOME MEASURES: The primary outcome was to assess the percentage of each diabetes subtype in our sample.
RESULTS: Type 1 diabetes represented the main cause (92.4%) of diabetes in this group of patients, followed by monogenic diabetes, which accounted for 6.3% of cases [maturity onset diabetes of the young (MODY), 5.5%; neonatal diabetes mellitus, 0.6%, genetic syndromes, 0.2%]. A genetic diagnosis prompted the transfer from insulin to sulphonylureas in 12 patients bearing mutations in the HNF1A or KCNJ11 genes. Type 2 diabetes was diagnosed in 1% of the patients.
CONCLUSIONS: Monogenic diabetes is highly prevalent in patients referred to Italian pediatric diabetes centers. A genetic diagnosis guided the therapeutic decisions, allowed the formulation of a prognosis regarding chronic diabetic complications for a relevant number of patients (i.e.,GCK/MODY), and helped to provide genetic counseling.
OBJECTIVE: The aim of the present study was to establish the relative percentage of different diabetes subtypes in patients attending Italian pediatric diabetes centers and the influence of an etiologic diagnosis on therapy.
DESIGN, SETTING, AND PATIENTS: This was a retrospective study. The clinical records of 3781 consecutive patients (age, 0 to 18 years) referred to 15 pediatric diabetes clinics with a diagnosis of diabetes or impaired fasting glucose from January 1, 2007 to December 31, 2012 were examined. The clinical characteristics of the patients at their first referral to the centers, type 1 diabetes-related autoantibodies, molecular genetics records, and C-peptide measurements, if requested for the etiologic diagnosis, were acquired.
MAIN OUTCOME MEASURES: The primary outcome was to assess the percentage of each diabetes subtype in our sample.
RESULTS: Type 1 diabetes represented the main cause (92.4%) of diabetes in this group of patients, followed by monogenic diabetes, which accounted for 6.3% of cases [maturity onset diabetes of the young (MODY), 5.5%; neonatal diabetes mellitus, 0.6%, genetic syndromes, 0.2%]. A genetic diagnosis prompted the transfer from insulin to sulphonylureas in 12 patients bearing mutations in the HNF1A or KCNJ11 genes. Type 2 diabetes was diagnosed in 1% of the patients.
CONCLUSIONS: Monogenic diabetes is highly prevalent in patients referred to Italian pediatric diabetes centers. A genetic diagnosis guided the therapeutic decisions, allowed the formulation of a prognosis regarding chronic diabetic complications for a relevant number of patients (i.e.,GCK/MODY), and helped to provide genetic counseling.
Предметные рубрики MeSH
AdolescentAutoantibodiesChildChild, PreschoolDiabetes ComplicationsDiabetes Mellitus, Type 1Diabetes Mellitus, Type 2FemaleGerminal Center KinasesHepatocyte Nuclear Factor 1-alphaHepatocyte Nuclear Factor 4HumansInfantInfant, NewbornItalyMalePotassium Channels, Inwardly RectifyingPrognosisProtein Serine-Threonine KinasesRetrospective StudiesKcnj11 Channel