Permanent neonatal diabetes mellitus case reports: a systematic review_Chinese Journal of Evidence-Based Medicine

Authors：

PEI Wenting ¹ , XU Chang ² ,  JIA Pengli ³

1. The Second Clinical Medical College of Anhui Medical University, Hefei 230000, P. R. China;
2. Proof of Concept Center, Eastern Hepatobiliary Surgery Hospital, Naval Medical University, Shanghai 200433, P. R. China;
3. School of Management, Shanxi Medical University, Taiyuan 030001, P. R. China;

Corresponding author：

JIA Pengli, Email: jiapenglili@163.com

Keywords：

Permanent neonatal diabetes mellitus; PNDM; Case report; Clinical characteristics

DOI：

10.7507/1672-2531.202311128

Video：

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Objective To systematically review the clinical and genetic features of permanent neonatal diabetes mellitus (PNDM) case reports. Methods The PubMed, Embase, Scopus, SinoMed, Web of Science, CINAHL, Medrxiv, VIP, CNKI and WanFang Data databases were electronically searched to collect PNDM case reports from inception to June 2023. Two reviewers independently screened literature, extracted data and assessed the reporting quality of the included studies. Descriptive analysis was performed. Results A total of 105 case reports were finally included. Typical clinical manifestations of PNDM were early onset of persistent hyperglycemia, developmental delay and low birth weight. The results of genetic testing showed that mutations in the KCNJ11, INS, EIF2AK3, GCK, ABCC8, PTF1A, GATA6, IER3IP1, SLC19A2, NEUROG3, PDX1, and 6q24 genes were closely associated with the development of PNDM. In addition, there may be different clinical manifestations and prognosis of PNDM in different genotypes. Conclusion This study reveales the clinical characteristics and genetic pattern of PNDM, and provides a direction for further research on the mechanism of PNDM.

Citation： PEI Wenting, XU Chang, JIA Pengli. Permanent neonatal diabetes mellitus case reports: a systematic review. Chinese Journal of Evidence-Based Medicine, 2024, 24(5): 572-576. doi: 10.7507/1672-2531.202311128 Copy

1.	邵肖梅, 叶鸿瑁, 丘小汕. 实用新生儿学(第5版). 北京: 人民卫生出版社, 2019: 917-918.
2.	Lemelman MB, Letourneau L, Greeley SAW. Neonatal diabetes mellitus: an update on diagnosis and management. Clin Perinatol, 2018, 45(1): 41-59.
3.	Kanakatti Shankar R, Pihoker C, Dolan LM, et al. Permanent neonatal diabetes mellitus: prevalence and genetic diagnosis in the SEARCH for diabetes in youth study. Pediatr Diabetes, 2013, 14(3): 174-180.
4.	De Franco E, Flanagan SE, Houghton JA, et al. The effect of early, comprehensive genomic testing on clinical care in neonatal diabetes: an international cohort study. Lancet, 2015, 386(9997): 957-963.
5.	Houtman MJC, Friesacher T, Chen X, et al. Development of IKATP ion channel blockers targeting sulfonylurea resistant mutant KIR6. 2 based channels for treating DEND syndrome. Front Pharmacol, 2022, 12: 814066.
6.	Zurynski Y, Frith K, Leonard H, et al. Rare childhood diseases: how should we respond. Arch Dis Child, 2008, 93(12): 1071-1074.
7.	Richason TP, Paulson SM, Lowenstein SR, et al. Case reports describing treatments in the emergency medicine literature: missing and misleading information. BMC Emerg Med, 2009, 9: 10.
8.	Haendel M, Vasilevsky N, Unni D, et al. How many rare diseases are there. Nat Rev Drug Discov, 2020, 19(2): 77-78.
9.	Vandenbroucke JP. In defense of case reports and case series. Ann Intern Med, 2001, 134(4): 330-334.
10.	Cohen H. How to write a patient case report. Am J Health Syst Pharm, 2006, 63(19): 1888-1892.
11.	Kodra Y, Posada de la Paz M, Coi A, et al. Data quality in rare diseases registries. Adv Exp Med Biol, 2017, 1031: 149-164.
12.	Gagnier JJ, Kienle G, Altman DG, et al. The CARE guidelines: consensus-based clinical case reporting guideline development. Glob Adv Health Med, 2013, 2(5): 38-43.
13.	Iafusco D, Zanfardino A, Piscopo A, et al. Case report: coeliac disease as a cause of secondary failure of glibenclamide therapy in a patient with permanent neonatal diabetes due to KCNJ11/R201C mutation. Diabetologia, 2021, 64(7): 1703-1706.
14.	Haris B, Mohammed I, Al-Khawaga S, et al. Homozygous insulin promotor gene mutation causing permanent neonatal diabetes mellitus and childhood onset autoantibody negative diabetes in the same family. Int Med Case Rep J, 2022, 15: 35-41.
15.	Fatani TH. EIF2AK3 novel mutation in a child with early-onset diabetes mellitus, a case report. BMC Pediatr, 2019, 19(1): 85.
16.	Esquiaveto-Aun AM, De Mello MP, Paulino MF, et al. A new compound heterozygosis for inactivating mutations in the glucokinase gene as cause of permanent neonatal diabetes mellitus (PNDM) in double-first cousins. Diabetol Metab Syndr, 2015, 7: 101.
17.	Mak CM, Lee CY, Lam CW, et al. Personalized medicine switching from insulin to sulfonylurea in permanent neonatal diabetes mellitus dictated by a novel activating ABCC8 mutation. Diagn Mol Pathol, 2012, 21(1): 56-59.
18.	Gonc EN, Ozon A, Alikasifoglu A, et al. Variable phenotype of diabetes mellitus in siblings with a homozygous PTF1A enhancer mutation. Horm Res Paediatr, 2015, 84(3): 206-211.
19.	Catli G, Abaci A, Flanagan SE, et al. A novel GATA6 mutation leading to congenital heart defects and permanent neonatal diabetes: a case report. Diabetes Metab, 2013, 39(4): 370-374.
20.	Rjiba K, Soyah N, Kammoun M, et al. Further report of MEDS syndrome: clinical and molecular delineation of a new Tunisian case. Eur J Med Genet, 2021, 64(9): 104285.
21.	Sun C, Pei Z, Zhang M, et al. Recovered insulin production after thiamine administration in permanent neonatal diabetes mellitus with a novel solute carrier family 19 member 2 (SLC19A2) mutation. J Diabetes, 2018, 10(1): 50-58.
22.	Rubio-Cabezas O, Jensen JN, Hodgson MI, et al. Permanent neonatal diabetes and enteric anendocrinosis associated with biallelic mutations in NEUROG3. Diabetes, 2011, 60(4): 1349-1353.
23.	Thomas IH, Saini NK, Adhikari A, et al. Neonatal diabetes mellitus with pancreatic agenesis in an infant with homozygous IPF-1 Pro63fsX60 mutation. Pediatr Diabetes, 2009, 10(7): 492-496.
24.	Cao BY, Gong CX, Wu D, et al. Permanent neonatal diabetes caused by abnormalities in chromosome 6q24. Diabet Med, 2017, 34(12): 1800-1804.
25.	Yorifuji T, Higuchi S, Hosokawa Y, et al. Chromosome 6q24-related diabetes mellitus. Clin Pediatr Endocrinol, 2018, 27(2): 59-65.
26.	罗燕飞, 梁玲, 孙光辉, 等. 新生儿糖尿病1例临床特点和基因突变分析. 中国当代儿科杂志, 2018, 20(11): 955-957.
27.	赵雪, 周巧利, 顾威. 三例新生儿糖尿病临床表型与基因分型诊断分析. 中国糖尿病杂志, 2021, 29(6): 405-409.
28.	张静, 陈虹, 陈瑞敏. 新生儿糖尿病研究进展. 临床儿科杂志, 2016, 34(5): 393-398.
29.	饶翀, 肖新华, 于淼. 二代测序在单基因糖尿病中的应用. 中国糖尿病杂志, 2017, 25(2): 178-180.
30.	王春林, 卢惠飞. 新生儿糖尿病的诊治思路. 临床儿科杂志, 2022, 40(5): 328-333, 338.

1. 邵肖梅, 叶鸿瑁, 丘小汕. 实用新生儿学(第5版). 北京: 人民卫生出版社, 2019: 917-918.
2. Lemelman MB, Letourneau L, Greeley SAW. Neonatal diabetes mellitus: an update on diagnosis and management. Clin Perinatol, 2018, 45(1): 41-59.
3. Kanakatti Shankar R, Pihoker C, Dolan LM, et al. Permanent neonatal diabetes mellitus: prevalence and genetic diagnosis in the SEARCH for diabetes in youth study. Pediatr Diabetes, 2013, 14(3): 174-180.
4. De Franco E, Flanagan SE, Houghton JA, et al. The effect of early, comprehensive genomic testing on clinical care in neonatal diabetes: an international cohort study. Lancet, 2015, 386(9997): 957-963.
5. Houtman MJC, Friesacher T, Chen X, et al. Development of IKATP ion channel blockers targeting sulfonylurea resistant mutant KIR6. 2 based channels for treating DEND syndrome. Front Pharmacol, 2022, 12: 814066.
6. Zurynski Y, Frith K, Leonard H, et al. Rare childhood diseases: how should we respond. Arch Dis Child, 2008, 93(12): 1071-1074.
7. Richason TP, Paulson SM, Lowenstein SR, et al. Case reports describing treatments in the emergency medicine literature: missing and misleading information. BMC Emerg Med, 2009, 9: 10.
8. Haendel M, Vasilevsky N, Unni D, et al. How many rare diseases are there. Nat Rev Drug Discov, 2020, 19(2): 77-78.
9. Vandenbroucke JP. In defense of case reports and case series. Ann Intern Med, 2001, 134(4): 330-334.
10. Cohen H. How to write a patient case report. Am J Health Syst Pharm, 2006, 63(19): 1888-1892.
11. Kodra Y, Posada de la Paz M, Coi A, et al. Data quality in rare diseases registries. Adv Exp Med Biol, 2017, 1031: 149-164.
12. Gagnier JJ, Kienle G, Altman DG, et al. The CARE guidelines: consensus-based clinical case reporting guideline development. Glob Adv Health Med, 2013, 2(5): 38-43.
13. Iafusco D, Zanfardino A, Piscopo A, et al. Case report: coeliac disease as a cause of secondary failure of glibenclamide therapy in a patient with permanent neonatal diabetes due to KCNJ11/R201C mutation. Diabetologia, 2021, 64(7): 1703-1706.
14. Haris B, Mohammed I, Al-Khawaga S, et al. Homozygous insulin promotor gene mutation causing permanent neonatal diabetes mellitus and childhood onset autoantibody negative diabetes in the same family. Int Med Case Rep J, 2022, 15: 35-41.
15. Fatani TH. EIF2AK3 novel mutation in a child with early-onset diabetes mellitus, a case report. BMC Pediatr, 2019, 19(1): 85.
16. Esquiaveto-Aun AM, De Mello MP, Paulino MF, et al. A new compound heterozygosis for inactivating mutations in the glucokinase gene as cause of permanent neonatal diabetes mellitus (PNDM) in double-first cousins. Diabetol Metab Syndr, 2015, 7: 101.
17. Mak CM, Lee CY, Lam CW, et al. Personalized medicine switching from insulin to sulfonylurea in permanent neonatal diabetes mellitus dictated by a novel activating ABCC8 mutation. Diagn Mol Pathol, 2012, 21(1): 56-59.
18. Gonc EN, Ozon A, Alikasifoglu A, et al. Variable phenotype of diabetes mellitus in siblings with a homozygous PTF1A enhancer mutation. Horm Res Paediatr, 2015, 84(3): 206-211.
19. Catli G, Abaci A, Flanagan SE, et al. A novel GATA6 mutation leading to congenital heart defects and permanent neonatal diabetes: a case report. Diabetes Metab, 2013, 39(4): 370-374.
20. Rjiba K, Soyah N, Kammoun M, et al. Further report of MEDS syndrome: clinical and molecular delineation of a new Tunisian case. Eur J Med Genet, 2021, 64(9): 104285.
21. Sun C, Pei Z, Zhang M, et al. Recovered insulin production after thiamine administration in permanent neonatal diabetes mellitus with a novel solute carrier family 19 member 2 (SLC19A2) mutation. J Diabetes, 2018, 10(1): 50-58.
22. Rubio-Cabezas O, Jensen JN, Hodgson MI, et al. Permanent neonatal diabetes and enteric anendocrinosis associated with biallelic mutations in NEUROG3. Diabetes, 2011, 60(4): 1349-1353.
23. Thomas IH, Saini NK, Adhikari A, et al. Neonatal diabetes mellitus with pancreatic agenesis in an infant with homozygous IPF-1 Pro63fsX60 mutation. Pediatr Diabetes, 2009, 10(7): 492-496.
24. Cao BY, Gong CX, Wu D, et al. Permanent neonatal diabetes caused by abnormalities in chromosome 6q24. Diabet Med, 2017, 34(12): 1800-1804.
25. Yorifuji T, Higuchi S, Hosokawa Y, et al. Chromosome 6q24-related diabetes mellitus. Clin Pediatr Endocrinol, 2018, 27(2): 59-65.
26. 罗燕飞, 梁玲, 孙光辉, 等. 新生儿糖尿病1例临床特点和基因突变分析. 中国当代儿科杂志, 2018, 20(11): 955-957.
27. 赵雪, 周巧利, 顾威. 三例新生儿糖尿病临床表型与基因分型诊断分析. 中国糖尿病杂志, 2021, 29(6): 405-409.
28. 张静, 陈虹, 陈瑞敏. 新生儿糖尿病研究进展. 临床儿科杂志, 2016, 34(5): 393-398.
29. 饶翀, 肖新华, 于淼. 二代测序在单基因糖尿病中的应用. 中国糖尿病杂志, 2017, 25(2): 178-180.
30. 王春林, 卢惠飞. 新生儿糖尿病的诊治思路. 临床儿科杂志, 2022, 40(5): 328-333, 338.

Chinese Journal of Evidence-Based Medicine

Permanent neonatal diabetes mellitus case reports: a systematic review

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