ABSTRACT
Maturity onset diabetes of the young (MODY) is a monogenic autosomal dominant inherited disease. Its clinical manifestations are asymptomatic with slightly elevated fasting blood glucose and few complications. This paper reports a novel mutation W257R in glucokinase () gene from a Chinese patient with MODY. Heterozygous mutation c.769T>C (p.W257R) in exon 7 of gene (Chr744187343) was found in the proband, her father and brother. This W257R mutation was first reported in Chinese population.
Subject(s)
Female , Humans , Male , China , Diabetes Mellitus, Type 2 , Genetics , Glucokinase , Genetics , Mutation , PedigreeABSTRACT
Objective To analyze the influence of 131 I therapy on thyroid function and bone metabolism in patients with Graves 's disease. Methods From February 2014 to January 2017,60 Graves patients in Shaoxing Central Hospital were studied. According to the random number table method,they were divided into observation group and control group,with 30cases in each group. The patients in the control group were treated with methimidazole,and the patients in the observation group were treated with 131 I combined with methimidazole. After treatment for 1 month, the clinical efficacy,three triiodothyronine (FT3 ),free thyroxine (FT4 ),thyroid stimulating hormone (TSH) concen-tration,parathyroid hormone (PTH),procollagen amino terminal propeptide (PINP) and osteocalcin (OCN),1,25 hydroxyvitamin D3(1,25(OH)2D3),bone mineral density (BMD),the incidence of goiter,exophthalmos,incidence of hypothyroidism of the two groups were observed. Results After treatment,the total effective rate of the observation group was 93. 33％ ,which of the control group was 73. 33％ . There was statistically significant difference between the two groups (χ2 = 4. 320,P = 0. 037). Before treatment,the levels of FT3 ,FT4 ,TSH between the two groups had no statisticallysignificant differences (all P > 0. 05). After treatment,the FT3 ,FT4 levels of the observation group were (12. 41 ± 1. 24) pmol/ L,(18. 33 ± 4. 25) pmol/ L,respectively,which were significantly lower than those of the control group[ (15. 98 ± 1. 30)pmol/ L,(22. 75 ± 4. 31)pmol/ L](t = 10. 884,P < 0. 0001;t = 4. 000,P < 0. 000). The concentration of TSH in the observation group was (2. 16 ± 0. 39)mIU/ L,which was significantly higher than that of the control group[(1. 72 ± 0. 34)mIU/ L](t = 4. 658,P < 0. 0001). Before treatment,the PTH,PINP,OCN,1,25 (OH)2D3 and BMD between the two groups had no statistically significant differences (all P > 0. 05). After treat-ment,the PINP and OCN of the observation group were (43. 21 ± 3. 69) μg/ L,(27. 42 ± 6. 48) μg/ Lrespectively, which were significantly lower than those of the control group [(55. 87 ± 3. 71) μg/ L,(31. 84 ± 6. 55) μg/ L] (t =13. 252,P < 0. 0001;t = 2. 628,P = 0. 011). The PTH,1,25 ( OH)2D3 and BMD of the observation group were (55. 87 ± 3. 18)ng/ L,(25. 16 ± 2. 84) nmol/ L,(0. 98 ± 0. 17) g/ cm2 ,respectively,which were significantly higher than those in the control group [(49. 89 ± 3. 21)ng/ L,(23. 2 ± 2. 76)nmol/ L,(0. 85 ± 0. 15)g/ cm2 ] (t = 7. 249, P < 0. 001;t = 2. 697,P = 0. 009;t = 3. 141,P = 0. 003). After treatment,the incidence rate of exophthalmos in the observation group was 6. 67％ ,which in the control group was 30. 00％ ,there was statistically significant difference between the two groups (χ2 = 5. 455,P = 0. 020). The incidence rate of goiter of observation group was 3. 33％ ,which was significantly lower than 23. 33％ of the control group (χ2 = 5. 192,P = 0. 023). The incidence rate of hypothy-roidism of the observation group was 13. 33％ ,which in the control group was 10. 00％ ,the difference between the two groups was not statistically significant (χ2 = 0. 162,P = 0. 688). Conclusion 131 I therapy has good clinical effect on Graves disease. It can effectively improve the thyroid function and bone metabolism and has high safety. It is worthy of widely application and popularizing in clinic.