Pancreatic developmental defect evaluated by celiac artery angiography in a patient with MODY5

Iwasaki, Naoko; Tsurumi, Masashi; Asai, Kuniya; Shimuzu, Wataru; Watanabe, Atsushi; Ogata, Makiko; Takizawa, Miho; Ide, Risa; Yamamoto, Toshiyuki; Saito, Kayoko

doi:10.1038/hgv.2016.22

Cited by 7 publications

(3 citation statements)

References 19 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Pancreatic abnormalities in MODY5 were mainly dysplasia. Ventral pancreatic dysplasia was the most prominent, because HNF1B was related to ventral pancreatic development, its mutation could cause pancreatic dysplasia (19)(20)(21). It was also reported that patients might have pancreas divisum, intraductal papillary mucinous tumo, yet these manifestations were extremely rare (6).…”

Section: Discussionmentioning

confidence: 99%

The Clinical Characteristics and Gene Mutations of Maturity-Onset Diabetes of the Young Type 5 in Sixty-One Patients

Yang

Cui

et al. 2022

Front. Endocrinol.

View full text Add to dashboard Cite

AimsMaturity-onset diabetes of the young type 5 (MODY5), a rare disease, is very easy to be misdiagnosed as type 2 diabetes. To get better understanding of the disease, we analyzed the clinical characteristics and gene mutations of MODY5.MethodsPubMed, Cochrane, the China National Knowledge Infrastructure, and Wanfang were searched with the following search terms: “MODY5” OR “HNF1B maturity-onset diabetes of the young” OR “maturity-onset diabetes of the young type 5” OR “renal cysts and diabetes syndrome”. Clinical characteristics and gene mutations of MODY5 were analyzed. The demography, clinical characteristics, and blood indicators of patients were described utilizing simple summary statistics. Variables were analyzed by t-test, Wilcoxon signed rank test, and Fisher exact test. Spearman’s correlation analysis was used for bi-variate analysis. All tests were two-sided, and a p-value < 0.05 was considered statistically significant. Statistical analysis was performed using the Statistical Package for the Social Sciences version 26 for Windows (SPSS).ResultsA total of 48 literatures were included in this study, including 61 eligible patients and 4 different mutations. Of the 39 patients with available body weight index, 15 (38.46%) were underweight, 21 (53.85%) were normal weight and 3 (7.69%) were overweight or obese. Of the 38 patients with available family history, 25 (65.79%) reported a family history of diabetes. Of the 34 patients with available age of diabetes diagnosis, the median age of diabetes diagnosis was 16.00 years old and 88.24% (30/34) of patients were under 25 years old when they were first diagnosed with diabetes. Renal cysts were presented in 72.41%, hypomagnesemia in 91.67%, and pancreatic dysplasia in 71.88% of the patients. Patients with hepatocyte nuclear factor 1B (HNF1B) deletion had lower serum magnesium, serum creatinine, and higher eGFR than patients with other gene mutations, and the difference was statistically significant.ConclusionsThe young onset of diabetes with low or normal BMI, renal cysts, hypomagnesemia, and pancreatic dysplasia should be recommended to genetic testing in order to differentiate MODY5 from other types of diabetes earlier.

show abstract

Section: Discussionmentioning

confidence: 99%

The Clinical Characteristics and Gene Mutations of Maturity-Onset Diabetes of the Young Type 5 in Sixty-One Patients

Yang

Cui

et al. 2022

Front. Endocrinol.

View full text Add to dashboard Cite

show abstract

“…Nevertheless, no other illnesses or health problems were found. To elucidate the various clinical presentations and characteristics of Chr17 deletion, we compared the clinical manifestations in our proband and previously reported patients with a similar deletion region (34,437.475-36,424,950) in Chr17q12 [7][8][9][10][11][12][13][14][15] (Fig. 2, Table 1).…”

Section: Case Presentationmentioning

confidence: 99%

A rare combination of MODY5 and duodenal atresia in a patient: a case report

Zeng

Wen

et al. 2020

BMC Med Genet

View full text Add to dashboard Cite

Background: Maturity-onset diabetes of the young (MODY) is a genetically and clinically heterogeneous group of hereditary diabetes, generally caused by one abnormal gene. MODY5 is caused by mutations of the hepatocyte nuclear factor 1 homeobox β gene (HNF1β), always as a part of Chr17q12 deletion, whereas heterozygous mutation in B lymphocyte kinase (BLK) gene is responsible for MODY11. Case presentation: We report a patient who developed diabetes with a 1.58-Mb Chr17q12 microdeletion and BLK gene c.211G > A mutation using the cytoscan high-density array and whole-exome sequencing analysis. The patient received the surgery at five days after birth for the duodenal atresia and had normal growth postoperatively. Mild elevated liver enzymes were found along with the normal renal function. Quantitative analysis of β-cell function markers, including fasting insulin (< 0.2 mIU/L), fasting C-peptide (0.02 μg/L), postprandial-2 h insulin (< 0.2 mIU/L), and postprandial-2 h C-peptide (0.03 μg/L) suggested a severe loss of insulin secreting capacity. Meanwhile, islet autoantibodies (GADA, IA-2, ICA, and IAA) in the patient's blood appeared negative. Neither dysplasia in other tissues nor abnormality in development and behavior was found. Conclusion: To date, gastrointestinal malformations were extremely rarely reported in patients with MODY. Our clinical report further expands the clinical presentation and variability of MODY5.

show abstract

“…In humans, mutations in the HNF1B gene result in renal cysts, diabetes syndrome and noninsulin-dependent diabetes mellitus. Some individuals with HNF1B mutations display pancreatic exocrine dysfunction, pancreatic hypoplasia, and, in some cases, complete absence of the pancreatic body and tail suggesting specific loss of dorsal pancreatic development (13,71). HNF6 (Hepatic Nuclear Factor 6; also known as ONECUT1 or OC-1) binds DNA to elicit transcription of genes that are important throughout endodermal development.…”

Section: Hepatocyte Nuclear Factorsmentioning

confidence: 99%

Development of the Pancreas

Pancreapedia: Exocrine Pancreas Knowledge Base

View full text Add to dashboard Cite

The adult pancreas is comprised of at least 10 different cells types including those with endocrine function (α, β, δ, γ, and ε), exocrine function (acinar and duct cells), vascular cells, neurons, and mesenchymal cells that are activated in response to injury. The endocrine and exocrine cells are derived from a common endodermal population of cells that also give rise to the liver and parts of the stomach and small intestine. The process by which these cells are specified to take on mature pancreatic phenotypes, and the extrinsic and intrinsic factors that guide these processes will be discussed within this chapter. For a more in depth discussion on the specific aspects of pancreatic development, there are a number of exceptional review articles that focus on transcriptional regulation, epigenetic regulation, cell lineage tracing, distinction from liver tissue, and signaling pathways involved (8, 22, 50, 79, 104, 127, 143).

show abstract

Pancreatic developmental defect evaluated by celiac artery angiography in a patient with MODY5

Cited by 7 publications

References 19 publications

The Clinical Characteristics and Gene Mutations of Maturity-Onset Diabetes of the Young Type 5 in Sixty-One Patients

The Clinical Characteristics and Gene Mutations of Maturity-Onset Diabetes of the Young Type 5 in Sixty-One Patients

A rare combination of MODY5 and duodenal atresia in a patient: a case report

Development of the Pancreas

Contact Info

Product

Resources

About