Renal Dysplasia and Precocious Diabetes Onset in Microcephalic Osteodysplastic Primordial Dwarfism Type II Syndrome: A Case Report

Segovia‐Ortí, Raquel; Cano, Natalia Espinosa de los Monteros Aliaga; Lumbreras, Javier; Sotto-Esteban, Diego de; Rodrigo, María Luisa Jiménez

doi:10.1055/s-0040-1716399

Cited by 1 publication

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“…There is a need for insulin for treatment. This diagnosis should be considered in diabetic patients starting at age 3 and with episodial dysplasia or acute renal failure 68 .…”

Section: Diabetes Mellitus Under the Age Of Six Months And Neonatal D...mentioning

confidence: 99%

Predominant genetic mutations leading to or predisposing diabetes progress: A Review

Banoon

Alfathi

Mostafavi

et al. 2022

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Diabetes mellitus (DM) arises following poor capacity to generate or secrete insulin or insulin resistance; hence insulin production impairment creates the illness. Individuals can control their weight, impulsivity, blood pressure, and blood lipids at the commencement of the disease. A single genetic mutation affects nearly 3% of people with diabetes. Surprisingly, beta cell function is regulated by more than 20 genes. Benefits of genetic diagnosis include improved therapy, better prediction of illness prognosis and progression, genetic counseling, and possibly prevention. Alpha HNF1 mutations in the early stages may respond to the regimen. Still, most patients need it because they control their blood glucose and will be subject to microvascular or macrovascular complications. In cases where insulin does not control sugar, using low-dose sulfonylureas would be beneficial and lower four times the glucose metabolism of metformin. These patients are susceptible to sulfonylureas and may be treated for years in case of no blood glucose attack complications. The drug will start at one-fourth of the adult dose: MODY1. It is caused by a mutation in the alpha-HNF 4 gene and is relatively uncommon. The same is true, but the threshold for renal excretion is not low, and the incidence of upward alpha-HNF 4 mutations in cases where there is a robust clinical panel for alpha HNF 1 but not confirmed by genetic sequencing should be considered. The disease is also susceptible to sulfonylureas: MODY4 with a mutation in the MODY6 gene, IPF1, with a mutation in MODY7, NeuroD1 is characterized by a carboxy sterilise mutation, which is not common: MODY2. In children and adolescents, an increment in fasting blood glucose of 100 to 150 mg/dl is not typical. The incidence of this condition is usually considered to be type 1 or 2 diabetes, but a large percentage of the above patients are heterozygote individuals, the glucokinase mutations. Specific mutations, including those rare variants in WFS1 and ABCC8 genes, insulin receptor (IR), fructose 6-phosphate aminotransferase (GFPT2), and nitric oxide synthase (eNOS), as well as mouse pancreatic β‐cell lines (Min6 and SJ cells), showed that the HDAC4 variant (p. His227Arg) had been directly linked with T2DM. Keywords: type-2 diabetes, genetic mutations, risk factors

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“…There is a need for insulin for treatment. This diagnosis should be considered in diabetic patients starting at age 3 and with episodial dysplasia or acute renal failure 68 .…”

Section: Diabetes Mellitus Under the Age Of Six Months And Neonatal D...mentioning

confidence: 99%

Predominant genetic mutations leading to or predisposing diabetes progress: A Review

Banoon

Alfathi

Mostafavi

et al. 2022

View full text Add to dashboard Cite

show abstract

Renal Dysplasia and Precocious Diabetes Onset in Microcephalic Osteodysplastic Primordial Dwarfism Type II Syndrome: A Case Report

Cited by 1 publication

References 24 publications

Predominant genetic mutations leading to or predisposing diabetes progress: A Review

Predominant genetic mutations leading to or predisposing diabetes progress: A Review

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