Clinical features and INS mutations of an infant with neonatal diabetes mellitus

doi:10.7499/j.issn.1008-8830.2018.11.015

PDF(1211 KB)

Chinese Journal of Contemporary Pediatrics ›› 2018, Vol. 20 ›› Issue (11) : 955-957. DOI: 10.7499/j.issn.1008-8830.2018.11.015

CASE REPORT

Clinical features and INS mutations of an infant with neonatal diabetes mellitus

LUO Yan-Fei, LIANG Ling, SUN Guang-Hui, et al

Author information +

History +

Abstract

No abstract available

Cite this article

EndNote

Ris (Procite)

Bibtex

Download Citations

LUO Yan-Fei, LIANG Ling, SUN Guang-Hui, et al. Clinical features and INS mutations of an infant with neonatal diabetes mellitus[J]. Chinese Journal of Contemporary Pediatrics. 2018, 20(11): 955-957 https://doi.org/10.7499/j.issn.1008-8830.2018.11.015

References

[1] 巩纯秀, 曹冰燕. 新生儿糖尿病分子遗传学机制研究进展[J]. 中华实用儿科临床杂志, 2015, 30(20):1521-1524.
[2] Støy J, Edghill EL, Flanagan SE, et al. Insulin gene mutations as a cause of permanent neonatal diabetes[J]. Proc Natl Acad Sci U S A, 2007, 104(38):15040-15044.
[3] Park SY, Ye H, Steiner DF, et al. Mutant proinsulin proteins associated with neonatal diabetes are retained in the endoplasmic reticulum and not efficiently secreted[J]. Biochem Biophys Res Commun, 2010, 391(3):1449-1454.
[4] Rajan S, Eames SC, Park SY, et al. In vitro processing and secretion of mutant insulin proteins that cause permanent neonatal diabetes[J]. Am J Physiol Endocrinol Metab, 2010, 298(3):E403-E410.
[5] Nour MA, Pacaud D. Height augmentation in 11β-hydroxylase deficiency congenital adrenal hyperplasia[J]. Int J Pediatr Endocrinol, 2015, 2015(1):12.
[6] 许瑶, 王静. 新生儿糖尿病[J]. 浙江临床医学, 2016, 18(2):378-380.
[7] 刘颖, 陶于洪. 新生儿糖尿病研究进展[J]. 国际儿科学杂志, 2011, 38(6):606-608.
[8] 李灿, 刘丽梅. 胰岛素基因突变与糖尿病关系的研究进展[J]. 上海交通大学学报(医学版), 2013, 33(3):354-358.
[9] 于淼, 刘一静, 李明敏, 等. 永久性新生儿糖尿病30例临床特点及治疗反应分析[J]. 中国糖尿病杂志, 2013, 5(4):209-211.
[10] Liu M, Sun JH, Cui JQ, 等. 胰岛素基因突变:从遗传学和β细胞生物学到临床疾病[J]. 崔景秋, 刘铭, 译. 国际内分泌代谢杂志, 2016, 36(2):128-134.