Agenesis of the dorsal pancreas presenting with diabetic ketoacidosis – a case report and literature review

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Abstract

Background

Agenesis of the dorsal pancreas (ADP) is clinically rare, and it is usually accompanied by abdominal pain. Various disorders of glucose metabolism associating with ADP have been reported, but there are only two studies reporting a correlation between ADP and DKA in English literature.

Case presentation

We present a case of a patient with ADP accompanied by abdominal pain and diabetic ketoacidosis as the initial clinical presentation. A 30-year-old man presented with a 3-month history of recurrent onset of persistent mild epigastric pain, which worsen when eating. Laboratory tests revealed metabolic acidosis, hyperglycemia, and ketonuria. Phase contrast CT and MRCP showed the absence of the body and tail of the pancreas, as well as the dorsal pancreatic duct. The C-peptide release test indicated β-cell dysfunction. A combination therapy of insulin, pancreatic enzyme supplements, and mosapride citrate were administrated and the pain gradually resolved.

Conclusions

As glucose metabolism disorders can vary across different individuals, we advise clinicians to consider the diagnosis of ADP for a patient who presents with a glucose metabolism disorder accompanied by abdominal pain, pancreatitis or steatorrhea.

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Most cited references 28

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Pancreatic agenesis attributable to a single nucleotide deletion in the human IPF1 gene coding sequence.

D A Stoffers, N T Zinkin, V Stanojevic … (1997)

The homeodomain protein IPF1 (also known as IDX1, STF1 and PDX1; see Methods) is critical for development of the pancreas in mice and is a key factor for the regulation of the insulin gene in the beta-cells of the endocrine pancreas. Targeted disruption of the Ipf1 gene encoding IPF1 in transgenic mice results in a failure of the pancreas to develop (pancreatic agenesis). Here, we report the identification of a single nucleotide deletion within codon 63 of the human IPF1 gene (13q12.1) in a patient with pancreatic agenesis. The patient is homozygous for the point deletion, whereas both parents are heterozygotes for the same mutation. The deletion was not found in 184 chromosomes from normal individuals, indicating that the mutation is unlikely to be a rare polymorphism. The point deletion causes a frame shift at the C-terminal border of the transactivation domain of IPF1 resulting in the translation of 59 novel codons before termination, aminoproximal to the homeodomain essential for DNA binding. Expression of mutant IPF1 in Cos-1 cells confirms the expression of a prematurely terminated truncated protein of 16 kD. Thus, the affected patient should have no functional IPF1 protein. Given the essential role of IPF1 in pancreas development, it is likely that this autosomal recessive mutation is the cause of the pancreatic agenesis phenotype in this patient. Thus, IPF1 appears to be a critical regulator of pancreas development in humans as well as mice.

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Mutations in PTF1A cause pancreatic and cerebellar agenesis.

Richard S. Houlston, C. Garrett, Emma L. Edghill … (2004)

Individuals with permanent neonatal diabetes mellitus usually present within the first three months of life and require insulin treatment. We recently identified a locus on chromosome 10p13-p12.1 involved in permanent neonatal diabetes mellitus associated with pancreatic and cerebellar agenesis in a genome-wide linkage search of a consanguineous Pakistani family. Here we report the further linkage analysis of this family and a second family of Northern European descent segregating an identical phenotype. Positional cloning identified the mutations 705insG and C886T in the gene PTF1A, encoding pancreas transcription factor 1alpha, as disease-causing sequence changes. Both mutations cause truncation of the expressed PTF1A protein C-terminal to the basic-helix-loop-helix domain. Reporter-gene studies using a minimal PTF1A deletion mutant indicate that the deleted region defines a new domain that is crucial for the function of this protein. PTF1A is known to have a role in mammalian pancreatic development, and the clinical phenotype of the affected individuals implicated the protein as a key regulator of cerebellar neurogenesis. The essential role of PTF1A in normal cerebellar development was confirmed by detailed neuropathological analysis of Ptf1a(-/-) mice.

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Cellular composition of the human diabetic pancreas.

J Rahier, R M Goebbels, J C Henquin (1983)

Insulin, glucagon, somatostatin and pancreatic polypeptide cells were stained by immunoperoxidase techniques and quantitated morphometrically in sections of pancreases obtained from eight control subjects, four Type 1 (insulin-dependent) and eight Type 2 (non-insulin-dependent) diabetic patients. The whole pancreas was studied to take into consideration the heterogeneous distribution of the different cell types. From the volume density of each cell type, and the weight of each lobe of the pancreas, the total mass of endocrine tissue was calculated. It averaged 1395 mg in control subjects, 413 mg in Type 1 and 1449 mg in Type 2 diabetic patients. The loss of endocrine tissue observed in the Type 1 patients was almost restricted to the lobe poor in pancreatic polypeptide cells. In these patients, B cells were practically absent (at the most seven per section), but the 'atrophic islets' still contained numerous A, D, or pancreatic polypeptide cells. The mass of A, D and pancreatic polypeptide cells and the ratio of D to A cells were not different from those measured in the control subjects. This shows that the disappearance of B cells in Type 1 diabetes has no preferential effect on any other endocrine cell of the pancreas. In Type 2 diabetes, the mass of A cells was increased, whereas that of B, D and pancreatic polypeptide cells was not changed. This hyperplasia of A cells leads to a decrease in the ratio of B to A and of D to A cells. These alterations may enlighten certain aspects of the physiopathology of Type 2 diabetes.

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Author and article information

Contributors

Tian Yang:

ORCID: http://orcid.org/0000-0002-8085-1838

8012023@zju.edu.cn

Xudan Yang: yangxudan123@163.com

Luping Wang: 841920285@qq.com

Jun Mo: mojun@zju.edu.cn

Journal

Journal ID (nlm-ta): BMC Endocr Disord

Journal ID (iso-abbrev): BMC Endocr Disord

Title: BMC Endocrine Disorders

Publisher: BioMed Central (London )

ISSN (Electronic): 1472-6823

Publication date (Electronic): 11 November 2019

Publication date PMC-release: 11 November 2019

Publication date Collection: 2019

Volume: 19

Electronic Location Identifier: 120

Affiliations

[1 ]ISNI 0000 0004 1759 700X, GRID grid.13402.34, Department of Endocrinology, Fourth Affiliated Hospital, School of Medicine, , Zhejiang University, Yiwu, 322000, ; Shangcheng Road N1, Yiwu, Zhejiang, China

[2 ]ISNI 0000 0004 1759 700X, GRID grid.13402.34, Department of Internal Medicine, Jinhua Municipal Central Hospital of, , Zhejiang University, ; Jinhua, Zhejiang, 321000 China

[3 ]ISNI 0000 0004 1759 700X, GRID grid.13402.34, Department of Neurosurgery, , Fourth Affiliated Hospital, School of Medicine, ; Zhejiang University, Yiwu, Zhejiang, 322000 China

Author information

Tian Yang http://orcid.org/0000-0002-8085-1838

Article

Publisher ID: 449

DOI: 10.1186/s12902-019-0449-1

PMC ID: 6849212

PubMed ID: 31711495

SO-VID: 5541acc5-ba50-4cc9-9140-05f9ef3ac27f

License:

Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License ( http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver ( http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.

History

Date received : 9 May 2019

Date accepted : 28 October 2019

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ScienceOpen disciplines: Endocrinology & Diabetes

Keywords: agenesis of the dorsal pancreas,diabetic ketoacidosis,diabetes mellitus,c-peptide release test

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ScienceOpen disciplines: Endocrinology & Diabetes

Keywords: agenesis of the dorsal pancreas, diabetic ketoacidosis, diabetes mellitus, c-peptide release test

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Agenesis of the dorsal pancreas presenting with diabetic ketoacidosis – a case report and literature review

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Abstract

Background

Case presentation

Conclusions

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Bioscientifica Open Endocrinology

Most cited references 28

Pancreatic agenesis attributable to a single nucleotide deletion in the human IPF1 gene coding sequence.

Mutations in PTF1A cause pancreatic and cerebellar agenesis.

Cellular composition of the human diabetic pancreas.

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Cited by 5

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