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Clinical features and partial proportional molecular genetics in neonatal diabetes mellitus: a retrospective analysis in southwestern China

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Abstract

Purpose

To explore the relationship of phenotype and genotype of neonatal diabetes mellitus (NDM) in southwestern China.

Methods

Sixteen cases of NDM admitted to Children’s Hospital of Chongqing Medical University from May 2009 to May 2019 were included in this study. The clinical features of the included infants were retrospectively analyzed. Peripheral blood samples of the patients and their parents were collected for mutation detection.

Results

Among the 16 cases of NDM, 8 cases were permanent neonatal diabetes mellitus (PNDM) (including 3 clinical syndromes), and 3 cases were transient neonatal diabetes mellitus (TNDM). Mutation detection was performed in six cases. The mutation genes and their loci were FOXP3 p.V408M, KCNJ11 p.C166Y, ABCC8 p.S830P, KCNJ11 p.I182T, KCNJ11 p.G334D, and ZFP57 p.R125X,412. ABCC8 p.S830P was the new found pathogenic site of gene mutation. According to the clinical features and follow-up results, one case was diagnosed as IPEX syndrome, two as DEND syndrome, two as simple PNDM, and one as TNDM. All the TNDM could spontaneously alleviate and then insulin was withdrawn. In PNDM, 75% of those with KATP channel gene mutation could be completely or partially converted to oral sulfonylureas treatment, however, the rest cases needed lifelong insulin replacement therapy.

Conclusion

The clinical manifestations and treatment regimens of patients with NDM vary according to the type of gene mutation. Even the same mutant genotype has differences in phenotype and response to treatment.

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Acknowledgements

The authors thank all the patients and their families for their invaluable contribution to this study and thank Juan Liu, MD, for her statistical assistance.

Author contributions

L.C. and H.W.: conceptualized and designed the study. L.C., Y.Z., P.D., and W.D.: collected and analyzed the data. L.C. and Q.H.: interpreted the mutation analysis. L.C. and Y.H.: drafted the original paper. H.W., Z.H., and M.Z.: reviewed and revised the manuscript. All authors read and approved the final manuscript.

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Authors and Affiliations

  1. Department of Neonatology, Children’s Hospital of Chongqing Medical University, Chongqing, PR China

    Luying Cao, Yi He, Yu Zhang, Pinglan Deng, Weixia Du, Ziyu Hua & Hong Wei

  2. Ministry of Education Key Laboratory of Child Development and Disorders; National Clinical Research Center for Child Health and Disorders; China International Science and Technology Cooperation base of Child development and Critical Disorders, Children’s Hospital of Chongqing Medical University, Chongqing, PR China

    Luying Cao, Yi He, Qinrong Huang, Yu Zhang, Pinglan Deng, Weixia Du, Ziyu Hua, Min Zhu & Hong Wei

  3. Chongqing Key Laboratory of Pediatrics, Children’s Hospital of Chongqing Medical University, Chongqing, PR China

    Luying Cao, Yi He, Qinrong Huang, Yu Zhang, Pinglan Deng, Weixia Du, Ziyu Hua, Min Zhu & Hong Wei

  4. Department of Rehabilitation, Children’s Hospital of Chongqing Medical University, Chongqing, PR China

    Qinrong Huang

  5. Department of Endocrinology, Children’s Hospital of Chongqing Medical University, Chongqing, PR China

    Min Zhu

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  1. Luying Cao
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Correspondence to Hong Wei.

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This study was approved by the Institutional Review Board of Children’s Hospital of Chongqing Medical University.

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Cao, L., He, Y., Huang, Q. et al. Clinical features and partial proportional molecular genetics in neonatal diabetes mellitus: a retrospective analysis in southwestern China. Endocrine 69, 53–62 (2020). https://doi.org/10.1007/s12020-020-02279-4

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