Objective:To investigate the clinical and molecular genetic characteristics of Chinese adolescents with maturity-onset diabetes of the young type 2(MODY 2)and the safety and efficacy of recombinant human growth hormon...Objective:To investigate the clinical and molecular genetic characteristics of Chinese adolescents with maturity-onset diabetes of the young type 2(MODY 2)and the safety and efficacy of recombinant human growth hormone(r-hGH).Methods:The clinical features and laboratory data of a family with MODY 2 combined with partial growth hormone deficiency(pGHD),diagnosed at the Fourth Clinical Medical College of Xinjiang Medical University,were analyzed.DNA was extracted from peripheral blood using the column method,and Sanger sequencing was conducted to analyze the glucokinase(GCK),hepatocyte nuclear factor 1α(HNF1α),and hepatocyte nuclear factor 4α(HNF4α)in the proband and relevant family members.Results:A heterozygous mutation in GCK(Reference sequence:NM_000162,location:Exon 10)c.1340G>A(p.R447Q)was detected in three family members(the proband,the proband’s younger brother,and their mother).The proband also had pGHD.Conclusion:GCK mutations causing MODY 2 exist in the Chinese population,and the combined treatment with r-hGH is safe and effective.展开更多
Positive diagnosis of diabetes is currently easy, but typing diagnosis of diabetes still remains a challenge for every clinician. It is currently accepted that types of diabetes apart from T1D and T2D can expand and i...Positive diagnosis of diabetes is currently easy, but typing diagnosis of diabetes still remains a challenge for every clinician. It is currently accepted that types of diabetes apart from T1D and T2D can expand and include several forms of diabetes mellitus;From gestational diabetes, to all forms of secondary diabetes mellitus due to medications, intercurrent disease but also infections, and finally monogenic diabetes, whose diagnosis is not always easy to establish. The aim is to reveal the difficulties that clinicians may face in the process of etiological diagnosis regarding the suspicion of this type of monogenic diabetes, through the study of 2 cases, in which MODY type diabetes was suspected. Today we recognize 17 different genetic mutations that can all lead to MODY diabetes, the most common mutation of which is GCK coding for the glucokinase, the real sensor of pancreatic Beta-cell. The truly stable glycemic profile, with an A1C ranging between 7% and 7.5%, confirmed with a TIR always above 70% and a good MAGE, but also the rarity of degenerative complications and pharmacological therapeutic abstention which can last for years, these would be the most striking clinical characteristics of a GCK MODY.展开更多
目的分析总结青少年起病的成人型糖尿病2型(maturity-onset diabetes of the young type 2,MODY2)患儿的临床表现及遗传学特点,提高临床工作中对MODY2的识别能力。方法回顾性分析2017年8月—2023年7月在华中科技大学同济医学院附属同济...目的分析总结青少年起病的成人型糖尿病2型(maturity-onset diabetes of the young type 2,MODY2)患儿的临床表现及遗传学特点,提高临床工作中对MODY2的识别能力。方法回顾性分析2017年8月—2023年7月在华中科技大学同济医学院附属同济医院儿科确诊的13例MODY2患儿的临床资料。结果13例MODY2患儿(编号P1~13)均有糖尿病家族史,均为健康体检或因感染性疾病偶然发现的轻度空腹高血糖[(6.4±0.5)mmol/L)]。其中2例空腹血糖达到糖尿病诊断标准,其他病例均为空腹血糖受损或糖耐量受损;1 h血糖(one-hour post-glucose,1-hPG)波动在8.31~13.06 mmol/L,已到达国际糖尿病联盟推荐的糖尿病诊断标准。13例MODY2患儿均为葡萄糖激酶(glucokinase,GCK)基因杂合变异,其中P6为GCK c.1047C>A(p.Y349X)、P11为GCK c.1146_1147insGCAGAGCGTGTCTACGCGCGCTGCGCACATGTGC(p.S383Alafs*87)和P13为GCK c.784_785insC(p.D262Alafs*13),均为尚未报道过的变异。结论该研究丰富了MODY2的基因变异谱;临床对于有糖尿病家族史、偶然发现的轻度空腹血糖增高、糖尿病相关抗体阴性的患儿,需警惕MODY2可能。展开更多
文摘Objective:To investigate the clinical and molecular genetic characteristics of Chinese adolescents with maturity-onset diabetes of the young type 2(MODY 2)and the safety and efficacy of recombinant human growth hormone(r-hGH).Methods:The clinical features and laboratory data of a family with MODY 2 combined with partial growth hormone deficiency(pGHD),diagnosed at the Fourth Clinical Medical College of Xinjiang Medical University,were analyzed.DNA was extracted from peripheral blood using the column method,and Sanger sequencing was conducted to analyze the glucokinase(GCK),hepatocyte nuclear factor 1α(HNF1α),and hepatocyte nuclear factor 4α(HNF4α)in the proband and relevant family members.Results:A heterozygous mutation in GCK(Reference sequence:NM_000162,location:Exon 10)c.1340G>A(p.R447Q)was detected in three family members(the proband,the proband’s younger brother,and their mother).The proband also had pGHD.Conclusion:GCK mutations causing MODY 2 exist in the Chinese population,and the combined treatment with r-hGH is safe and effective.
文摘Positive diagnosis of diabetes is currently easy, but typing diagnosis of diabetes still remains a challenge for every clinician. It is currently accepted that types of diabetes apart from T1D and T2D can expand and include several forms of diabetes mellitus;From gestational diabetes, to all forms of secondary diabetes mellitus due to medications, intercurrent disease but also infections, and finally monogenic diabetes, whose diagnosis is not always easy to establish. The aim is to reveal the difficulties that clinicians may face in the process of etiological diagnosis regarding the suspicion of this type of monogenic diabetes, through the study of 2 cases, in which MODY type diabetes was suspected. Today we recognize 17 different genetic mutations that can all lead to MODY diabetes, the most common mutation of which is GCK coding for the glucokinase, the real sensor of pancreatic Beta-cell. The truly stable glycemic profile, with an A1C ranging between 7% and 7.5%, confirmed with a TIR always above 70% and a good MAGE, but also the rarity of degenerative complications and pharmacological therapeutic abstention which can last for years, these would be the most striking clinical characteristics of a GCK MODY.
文摘目的分析总结青少年起病的成人型糖尿病2型(maturity-onset diabetes of the young type 2,MODY2)患儿的临床表现及遗传学特点,提高临床工作中对MODY2的识别能力。方法回顾性分析2017年8月—2023年7月在华中科技大学同济医学院附属同济医院儿科确诊的13例MODY2患儿的临床资料。结果13例MODY2患儿(编号P1~13)均有糖尿病家族史,均为健康体检或因感染性疾病偶然发现的轻度空腹高血糖[(6.4±0.5)mmol/L)]。其中2例空腹血糖达到糖尿病诊断标准,其他病例均为空腹血糖受损或糖耐量受损;1 h血糖(one-hour post-glucose,1-hPG)波动在8.31~13.06 mmol/L,已到达国际糖尿病联盟推荐的糖尿病诊断标准。13例MODY2患儿均为葡萄糖激酶(glucokinase,GCK)基因杂合变异,其中P6为GCK c.1047C>A(p.Y349X)、P11为GCK c.1146_1147insGCAGAGCGTGTCTACGCGCGCTGCGCACATGTGC(p.S383Alafs*87)和P13为GCK c.784_785insC(p.D262Alafs*13),均为尚未报道过的变异。结论该研究丰富了MODY2的基因变异谱;临床对于有糖尿病家族史、偶然发现的轻度空腹血糖增高、糖尿病相关抗体阴性的患儿,需警惕MODY2可能。
