Literature DB >> 29317564

PDX1 Gene Mutation with Permanent Neonatal Diabetes Mellitus with Annular Pancreas, Duodenal Atresia, Hypoplastic Gall Bladder and Exocrine Pancreatic Insufficiency.

Abhishek Kulkarni1, Varun K Sharma, Fazal Nabi.   

Abstract

BACKGROUND: Neonatal diabetes mellitus is a rare condition. CASE CHARACTERISTICS: A small for gestational age male, presented with neonatal onset diabetes mellitus, duodenal atresia, annular pancreas and gall bladder hypoplasia. OBSERVATION: Observation: A novel homozygous mutation p.K163R (c.488A>G) in the PDX1 gene was found. Parents were heterozygous for the same. MESSAGE: This case highlights the importance of establishing the genetic diagnosis in all cases of neonatal diabetes mellitus.

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Year:  2017        PMID： 29317564     DOI： 10.1007/s13312-017-1211-2

Source DB:  PubMed          Journal:  Indian Pediatr        ISSN： 0019-6061            Impact factor:   1.411


  2 in total

1.  Sensor Augmented Pump Therapy is Safe and Effective in Very Low Birth Weight Newborns Affected by Neonatal Diabetes Mellitus, With Poor Subcutaneous Tissue: Replacement of the Insulin Pump Infusion Set on the Arm, a Video Case Report.

Authors:  Angela Zanfardino; Mauro Carpentieri; Alessia Piscopo; Stefano Curto; Emanuele Miraglia Del Giudice; Alessia Inverardi; Mario Diplomatico; Sabino Moschella; Ferdinando Spagnuolo; Elisabetta Caredda; Paolo Montaldo; Dario Iafusco
Journal:  J Diabetes Sci Technol       Date:  2021-09-02

2.  First Japanese Family With PDX1-MODY (MODY4): A Novel PDX1 Frameshift Mutation, Clinical Characteristics, and Implications.

Authors:  Satoshi Yoshiji; Yukio Horikawa; Sodai Kubota; Mayumi Enya; Yorihiro Iwasaki; Yamato Keidai; Megumi Aizawa-Abe; Kanako Iwasaki; Sachiko Honjo; Kazuyoshi Hosomichi; Daisuke Yabe; Akihiro Hamasaki
Journal:  J Endocr Soc       Date:  2021-10-17
  2 in total

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