Four Cases of Maturity Onset Diabetes of the Young (MODY) Type 5 Associated with Mutations in the Hepatocyte Nuclear Factor 1 Beta (HNF1B) Gene Presenting in a 13-Year-Old Boy and in Adult Men Aged 33, 34, and 35 Years in Poland

Motyka, Rafał; Kołbuc, Marcin; Wierzchołowski, Wojciech; Beck, Bodo B.; Towpik, Iwona; Zaniew, Marcin

doi:10.12659/ajcr.928994

Cited by 8 publications

(7 citation statements)

References 21 publications

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“…In patients with HNF1B-MODY presence of cystic kidneys, pancreatic abnormalities and elevated liver enzymes are common and were used as predictors of HNF1B mutations [ 101 ]. Similarly, the presence of renal/pancreatic abnormalities in young patients with diabetes are suggestive for genetic testing for HNF1B-MODY [ 102 , 103 ].…”

Section: Molecular Pathophysiology Of the Most Common Mody Subtypesmentioning

confidence: 99%

Maturity Onset Diabetes of the Young—New Approaches for Disease Modelling

Skoczek

Dulak

Kachamakova‐Trojanowska

2021

IJMS

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Maturity-onset diabetes of the young (MODY) is a genetically heterogeneous group of monogenic endocrine disorders that is characterised by autosomal dominant inheritance and pancreatic β-cell dysfunction. These patients are commonly misdiagnosed with type 1 or type 2 diabetes, as the clinical symptoms largely overlap. Even though several biomarkers have been tested none of which could be used as single clinical discriminator. The correct diagnosis for individuals with MODY is of utmost importance, as the applied treatment depends on the gene mutation or is subtype-specific. Moreover, in patients with HNF1A-MODY, additional clinical monitoring can be included due to the high incidence of vascular complications observed in these patients. Finally, stratification of MODY patients will enable better and newer treatment options for MODY patients, once the disease pathology for each patient group is better understood. In the current review the clinical characteristics and the known disease-related abnormalities of the most common MODY subtypes are discussed, together with the up-to-date applied diagnostic criteria and treatment options. Additionally, the usage of pluripotent stem cells together with CRISPR/Cas9 gene editing for disease modelling with the possibility to reveal new pathophysiological mechanisms in MODY is discussed.

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Section: Molecular Pathophysiology Of the Most Common Mody Subtypesmentioning

confidence: 99%

Maturity Onset Diabetes of the Young—New Approaches for Disease Modelling

Skoczek

Dulak

Kachamakova‐Trojanowska

2021

IJMS

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“…Motyka had reported four cases of MODY5. These patients all had various degrees of hypomagnesaemia [10] . 74% of MODY5 patients had renal insufficiency with hypomagnesaemia and hypocalcinuria.…”

Section: Discussionmentioning

confidence: 99%

A Maturity-Onset Diabetes of The Young (MODY) 5 Young Woman With HNF1B Heterozygosity Missing Based On 17q12 Recurrent Deletion Syndrome

Cheng¹,

Zhong²,

Ren³

et al. 2021

Preprint

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Maturity-onset diabetes of the young type 5 (MODY5) is a rare subtype of MODYs. It caused by mutations of the hepatocyte nuclear factor 1 homeobox b gene (HNF1B). A 21-year-old young woman was admitted to our hospital for severe malnutrition and gastrointestinal symptoms. At age 20, she was diagnosed with type 2 diabetes mellitus and was administered with oral antidiabetic drugs. Soon afterwards, the patient discontinued the medication on her own accord, and then went to the hospital again due to diabetic ketoacidosis. After insulin treatment, diabetic ketoacidosis was cured and blood glucose was controlled satisfactorily. But intractable nausea, vomiting and persistent weight loss was stubborn. Further examination revealed that the patient had hypokalemia and hard rectification hypomagnesemia. Genetic testing revealed about 1.85Mb heterozygous fragment deletion on chromosome 17 and deletion of exons 1-9 of HNF1B heterozygosity missing was approved. Finally, the patient was diagnosed MODY 5 with HNF1B heterozygosity missing based on 17q12 recurrent deletion syndrome. Key words: Maturity-onset diabetes of the young 5 (MODY5), Hepatocyte nuclear factor 1 homeobox b gene (HNF1B), 17q12 Recurrent deletion syndrome

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“…HNF1B recognizes a site containing ion transport regulator 2 gene, which can cause hypomagnesaemia with hypermagnesuria and hypocalcinuria [ 13 ]. Motyka had reported four cases of MODY5 and these patients all had various degrees of hypomagnesaemia [ 14 ]. 74% of 17q12 recurrent deletion syndrome patients had renal insufficiency with hypomagnesaemia and/or hypocalcinuria [ 15 ].…”

Section: Discussionmentioning

confidence: 99%

Unusual manifestations of young woman with MODY5 based on 17q12 recurrent deletion syndrome

Cheng¹,

Zhong²,

Li³

et al. 2022

BMC Endocr Disord

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Background Maturity-onset diabetes of the young type 5 (MODY5) is a rare subtype of MODYs. It is caused by mutations of the hepatocyte nuclear factor 1 homeobox b gene (HNF1B). 17q12 recurrent deletion syndrome usually results in MODY5 because of the deletion of HNF1B. These patients often have other clinical manifestations besides diabetes. Refractory hypomagnesemia was a clue for further examination in this patient. But she lacked structural abnormalities of the genitourinary system and neurodevelopmental disorders that are common manifestations in patients with 17q12 recurrent deletion syndrome. Some atypical patients deserved attention. Case presentation A 21-year-old young woman was admitted to our hospital for severe malnutrition and gastrointestinal symptoms. At age 20, she was diagnosed with type 2 diabetes mellitus (T2DM) and was administered oral antidiabetic drugs. Soon afterward, the patient discontinued the medication on her own accord and then went to the hospital again due to diabetic ketoacidosis. After insulin treatment, diabetic ketoacidosis was cured and blood glucose was controlled satisfactorily. But intractable nausea, vomiting, and persistent weight loss were stubborn. Further examination revealed that the patient had hypokalemia and hard rectification hypomagnesemia. Genetic testing revealed about 1.85 Mb heterozygous fragment deletion on chromosome 17 and deletion of exons 1–9 of HNF1B heterozygosity missing was approved. Finally, the patient was diagnosed MODY5. Discussion and Conclusions The 17q12 recurrent deletion syndrome is characterized by MODY5, structural or functional abnormalities of the kidney and urinary tract, and neurodevelopmental or neuropsychiatric disorders. This patient did not have any structural abnormalities of the genitourinary system and neuropsychiatric disorders, which is rare. She had experienced a period of misdiagnosis before being diagnosed with 17q12 recurrent deletion syndrome, and hypomagnesemia was an important clue for her diagnosis. Therefore, diabetic physicians should be alert to a special type of diabetes if patients have unexplained signs and symptoms. The absence of well-known features of HNF1B disease does not exclude MODY5.

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Four Cases of Maturity Onset Diabetes of the Young (MODY) Type 5 Associated with Mutations in the Hepatocyte Nuclear Factor 1 Beta (HNF1B) Gene Presenting in a 13-Year-Old Boy and in Adult Men Aged 33, 34, and 35 Years in Poland

Cited by 8 publications

References 21 publications

Maturity Onset Diabetes of the Young—New Approaches for Disease Modelling

Maturity Onset Diabetes of the Young—New Approaches for Disease Modelling

A Maturity-Onset Diabetes of The Young (MODY) 5 Young Woman With HNF1B Heterozygosity Missing Based On 17q12 Recurrent Deletion Syndrome

Unusual manifestations of young woman with MODY5 based on 17q12 recurrent deletion syndrome

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