Liver and Kidney Function in Japanese Patients With Maturity-Onset Diabetes of the Young

Iwasaki, Naoko; Ogata, Makiko; Takahashi, Osamu; Kuroki, Hiroyuki; Kasahara, Tadasu; Yano, Nobuki; Iwamoto, Yasuhiko

doi:10.2337/diacare.21.12.2144

Cited by 85 publications

(61 citation statements)

References 20 publications

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“…These results were in agreement with those reported in other populations. 22,23 On the other hand, over half of the MODYX subjects were overweight, compared to only 24% in the MODY3 subjects. Furthermore, the higher BMI and triglyceride, lower HDL and a higher prevalence of hypertension in MODYX subjects suggested the presence of greater insulin resistance compared to the MODY3 subjects.…”

Section: Discussionmentioning

confidence: 99%

Genetic and clinical characteristics of maturity-onset diabetes of the young in Chinese patients

Dan

Chan

et al. 2004

Eur J Hum Genet

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In Caucasians, maturity-onset diabetes of the young (MODY) is mostly caused by mutations in the hepatocyte nuclear factor (HNF)-1a (MODY3) and glucokinase (MODY2) genes. Most Japanese MODY patients, however, are not linked to known MODY genes. In this study, we examined the genetic and clinical characteristics of Chinese subjects with MODY. The study included 146 unrelated families fulfilling the minimum criteria for MODY: two consecutive generations of type II diabetes with at least one member diagnosed under the age of 25. We screened for mutations in the HNF-4a (MODY1), MODY2 and MODY3 genes by direct sequencing. Antibody to glutamic acid decarboxylase (GAD-Ab) was measured in subjects with MODY of unknown cause (MODYX). Insulin resistance index and other clinical data were compared in sex-, age-and duration-matched MODY3 and MODYX patients. In all, 13 families had MODY3 mutations and two had MODY2 mutations. No MODY1 mutation was found. Four of the 12 different MODY3 mutations were newly identified novel mutations (Q243E, A311D, P379R and P488fsdelC). In subjects with MODYX, 3% were GAD-Ab positive and 60% were overweight. Compared to MODY3 patients, MODYX patients had higher body mass index (Po0.02), higher insulin resistance index (P ¼ 0.001) and triglyceride level (Po0.02), lower HDL level (P ¼ 0.001) and more hypertension (Po0.05), but no significant difference in the prevalence of diabetic complications. In conclusion, MODY3 and MODY2 account for only 9 and 1%, respectively, of Chinese MODY. A majority of Chinese MODY patients are due to defects in unknown genes and appear to be characterized by insulin resistance.

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Section: Discussionmentioning

confidence: 99%

Genetic and clinical characteristics of maturity-onset diabetes of the young in Chinese patients

Dan

Chan

et al. 2004

Eur J Hum Genet

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“…HNF-4(R127W) mutation in these individuals is not a functional mutation but rather is a rare polymorphism and therefore does not lead to altered HNF-4␣-dependent gene expression (23,25). The other study, which reports a family with a HNF-4(R154X) mutation, found elevated Lp(a) levels and no significant differences in apo(AII), apo(CIII), and triglyceride levels (24).…”

Section: Genotype/phenotype In Hnf-4␣/mody1mentioning

confidence: 97%

Genotype/phenotype relationships in HNF-4alpha/MODY1: haploinsufficiency is associated with reduced apolipoprotein (AII), apolipoprotein (CIII), lipoprotein(a), and triglyceride levels.

et al. 2000

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“…TCF2 adult patients have mild to moderate renal failure in the absence of diabetic nephropathy (18). Moreover, pancreatic atrophy, urogenital abnormalities, abnormal liver enzyme levels, and hyperuricemia are observed in patients with TCF2 mutations (12)(13)(14)19,20). Prenatal forms also were described but only as a case report: Cystic renal dysplasia (8,9,12,16), bilateral hyperechogenic kidneys (14,21), renal agenesis, pelvicaliceal dilation, and multicystic dysplastic kidney (14).…”

mentioning

confidence: 99%

Anomalies of the TCF2 Gene Are the Main Cause of Fetal Bilateral Hyperechogenic Kidneys

Decramer

Parant

Beaufils³

et al. 2007

Journal of the American Society of Nephrology

226

194

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Prenatal discovery of fetal bilateral hyperechogenic kidneys is very stressful for pregnant women and their family, and accurate diagnosis of the cause of the moderate forms of this pathology is very difficult. Hepatocyte nuclear factor-1␤ that is encoded by the TCF2 gene is involved in the embryonic development of the kidneys. Sixty-two pregnancies with fetal bilateral hyperechogenic kidneys including 25 fetuses with inaccurate diagnosis were studied. TCF2 gene anomalies were detected in 18 (29%) of these 62 patients, and 15 of these 18 patients presented a complete heterozygous deletion of the TCF2 gene. Family screening revealed de novo TCF2 anomalies in more than half of the patients. TCF2 anomalies were associated with normal amniotic fluid volume and normal-sized kidneys between ؊2 and ؉2 SD in all patients except for two sisters. Antenatal cysts were detected in 11 of 18 patients, unilaterally in eight of 11. After birth, cysts appeared during the first year (17 of 18), and in patients with antenatal cysts, the number increased and developed bilaterally with decreased renal growth. In these 18 patients, the GFR decreased with longer follow-up and was lower in patients with solitary functioning dysplastic kidney. Heterozygous deletion of the TCF2 gene is an important cause of fetal hyperechogenic kidneys in this study and showed to be linked with early disease expression. The renal phenotype and the postnatal evolution were extremely variable and need a prospective long-term follow-up. Extrarenal manifestations are frequent in TCF2-linked pathologies. Therefore, prenatal counseling and follow-up should be multidisciplinary.

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Liver and Kidney Function in Japanese Patients With Maturity-Onset Diabetes of the Young

Cited by 85 publications

References 20 publications

Genetic and clinical characteristics of maturity-onset diabetes of the young in Chinese patients

Genetic and clinical characteristics of maturity-onset diabetes of the young in Chinese patients

Genotype/phenotype relationships in HNF-4alpha/MODY1: haploinsufficiency is associated with reduced apolipoprotein (AII), apolipoprotein (CIII), lipoprotein(a), and triglyceride levels.

Anomalies of the TCF2 Gene Are the Main Cause of Fetal Bilateral Hyperechogenic Kidneys

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