Multigenerational inheritance and clinical characteristics of three large pedigrees with early-onset type 2 diabetes in Jamaica
Date
2010Author
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OBJECTIVE: To document the existence and clinical characteristics of three large families with multigenerational inheritance of early-onset type 2 diabetes in Jamaica. METHODS: Three probands from large families with multigenerational inheritance of early-onset type 2 diabetes in at least three generations were detected at the University Hospital of the West Indies in Jamaica. Each proband at the time of diagnosis was 25 years of age, was lean, and did not require insulin therapy. Clinical, metabolic, and genetic assessments were undertaken to profile the diabetes in the three families. RESULTS: Three pedigrees-BK, SU, and CA-consisting of 38, 48, and 113 members, respectively, with multigenerational inheritance of early-onset type 2 diabetes in at least three generations, were investigated. The mean age at diagnosis of the three pedigrees was 31.5 ± 2.9 years, with 10 persons detected below 25 years of age. Findings suggestive of overweight, insulin resistance, low insulin secretion, dyslipidemia, and mild intra-abdominal obesity were present. Islet cell antibodies and sequence variants in MODY1 to -6 genes were absent. CONCLUSIONS: Large families demonstrating multigenerational inheritance of diabetes and other characteristics consistent with early-onset type 2 diabetes are present in the Jamaican population.(AU) OBJETIVO: Documentar la presencia de herencia multigeneracional de la diabetes de tipo II de inicio temprano en tres familias jamaiquinas grandes y describir sus características clínicas. MÉTODOS: En el Hospital Universitario de West Indies en Jamaica, se detectaron tres probandos de familias grandes en las que se observó herencia multigeneracional de la diabetes tipo 2 de inicio temprano en al menos tres generaciones. Al momento del diagnóstico, cada probando tenía # 25 años de edad, era delgado y no necesitó insulinoterapia. Se emprendieron estudios clínicos, metabólicos y genéticos con el fin de determinar las características particulares de la diabetes que presentan estas tres familias. RESULTADOS: Se investigaron tres árboles genealógicos -BK, SU y CA- conformados por 38, 48 y 113 miembros, respectivamente. Cada árbol presentaba herencia multigeneracional de diabetes tipo 2 de inicio temprano en al menos tres generaciones. En los tres árboles genealógicos, la media de la edad al momento del diagnóstico fue de 31,5 ± 2,9 años y 10 personas tenían menos de 25 años. Se observaron signos indicativos de sobrepeso, resistencia insulínica, baja secreción de insulina, dislipidemia y obesidad intrabdominal leve. No se hallaron anticuerpos contra las células de los islotes ni variantes en la secuencia de los genes MODY1 a MODY6. CONCLUSIONES: Algunas familias grandes de la población jamaiquina presentan herencia multigeneracional de la diabetes y otras características indicativas de diabetes tipo 2 de inicio temprano.(AU)
Subject
Inheritance Patterns; Diabetes Mellitus, Type 2; Pedigree; Jamaica; Patrón de herencia; Diabetes Mellitus Tipo 2; Linaje; Jamaica; Diabetes Mellitus Tipo 2; Linhagem; Gordura Abdominal; Idade de Início; Antropometria; Autoanticorpos; Peso Corporal; Comorbidade; Análise Mutacional de DNA; Diabetes Mellitus Tipo 2; Dislipidemias; Hemoglobina A Glicosilada; Insulina; Resistência à Insulina; Ilhotas Pancreáticas; Jamaica
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http://www.scielosp.org/scielo.php?script=sci_arttext&pid=S1020-49892010000600004https://iris.paho.org/handle/10665.2/9678
Citation
Mills, James L,Irving, Rachael R,Choo-Kang, Eric G,Wright-Pascoe, Rosemarie,McLaughlin, Wayne,Mullings, Anthony A,Morrison, Errol Y,Gabay, Leslie (2010) Multigenerational inheritance and clinical characteristics of three large pedigrees with early-onset type 2 diabetes in Jamaica. Rev Panam Salud Publica;27(6) 435-441,june 2010. Retrieved from http://www.scielosp.org/scielo.php?script=sci_arttext&pid=S1020-49892010000600004
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