TY - JOUR
T1 - Identification and Clinical Characterization of Adult Patients with Multigenerational Diabetes Mellitus
AU - Ludovico, Ornella
AU - Carella, Massimo
AU - Bisceglia, Luigi
AU - Basile, Giorgio
AU - Mastroianno, Sandra
AU - Palena, Antonio
AU - De Cosmo, Salvatore
AU - Copetti, Massimiliano
AU - Prudente, Sabrina
AU - Trischitta, Vincenzo
PY - 2015/8/19
Y1 - 2015/8/19
N2 - Background Some patients diagnosed as having type 2 diabetes mellitus (T2DM) are, instead, affected by multigenerational diabetes whose clinical characteristics are mostly undefined. Objective1. To identify among patients who had been previously defined as affected by T2DM those, in fact, affected by multigenerational diabetes; 2. After excluding patients carrying the most common MODY genes and mitochondrial mutations, we compared clinical features of remaining patients with those of patients with T2DM. Methods Among 2,583 consecutive adult patients who had been defined as affected by T2DM, we looked for those with diabetes in 3 consecutive generations. All probands were screened for mutations in six MODY genes (HNF4A, GCK, HNF1A, PDX1, HNF1B and NeuroD1) and for the A3243G mitochondrial mutation. After excluding patients with mutations in one of such genes, we compared clinical features of the remaining 67 patients (2.6% of the whole initial sample) affected by multigenerational "familial diabetes of the adulthood" (FDA) and of their diabetic relatives (n = 63) to those with T2DM (n = 1,028) by generalized hierarchical linear models followed by pairwise comparisons. Results Age, age at diagnosis, proportion of hypertension (all p
AB - Background Some patients diagnosed as having type 2 diabetes mellitus (T2DM) are, instead, affected by multigenerational diabetes whose clinical characteristics are mostly undefined. Objective1. To identify among patients who had been previously defined as affected by T2DM those, in fact, affected by multigenerational diabetes; 2. After excluding patients carrying the most common MODY genes and mitochondrial mutations, we compared clinical features of remaining patients with those of patients with T2DM. Methods Among 2,583 consecutive adult patients who had been defined as affected by T2DM, we looked for those with diabetes in 3 consecutive generations. All probands were screened for mutations in six MODY genes (HNF4A, GCK, HNF1A, PDX1, HNF1B and NeuroD1) and for the A3243G mitochondrial mutation. After excluding patients with mutations in one of such genes, we compared clinical features of the remaining 67 patients (2.6% of the whole initial sample) affected by multigenerational "familial diabetes of the adulthood" (FDA) and of their diabetic relatives (n = 63) to those with T2DM (n = 1,028) by generalized hierarchical linear models followed by pairwise comparisons. Results Age, age at diagnosis, proportion of hypertension (all p
UR - http://www.scopus.com/inward/record.url?scp=84942645709&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84942645709&partnerID=8YFLogxK
U2 - 10.1371/journal.pone.0135855
DO - 10.1371/journal.pone.0135855
M3 - Article
AN - SCOPUS:84942645709
VL - 10
JO - PLoS One
JF - PLoS One
SN - 1932-6203
IS - 8
M1 - e0135855
ER -