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1.
Arch. endocrinol. metab. (Online) ; 63(3): 250-257, May-June 2019. tab, graf
Artigo em Inglês | LILACS | ID: biblio-1011159

RESUMO

ABSTRACT Objective To verify the presence of variants in HNF1B in a sample of the Brazilian population selected according to the presence of renal cysts associated with hyperglycemia. Subjects and methods We evaluated 28 unrelated patients with clinical suspicion of HNF1B mutation because of the concomitant presence of diabetes mellitus (DM) or prediabetes and renal cysts. Genotyping was accomplished using Sanger sequencing or multiplex ligation-dependent probe amplification (MLPA). In positive cases, available relatives were recruited. Results We found two patients with HNF1B mutations. The first presented the variant p.Pro328Leufs*48(c.983delC) and had DM, renal cysts, and hypomagnesemia. The second presented a heterozygous whole gene deletion in HNF1B, DM, renal cysts, body and tail pancreatic agenesis, and hypomagnesemia; this alteration was also found in his two siblings and his father. Conclusion The recruitment of suspected cases of HNF1B gene mutations in Brazilians due to hyperglycemia and renal cysts presents two positive cases. Our cases contribute to the annotation of clinical and biochemical phenotypes of this rare form of maturity-onset diabetes of the young (MODY).


Assuntos
Humanos , Adulto , Pessoa de Meia-Idade , Nefropatias Diabéticas/genética , Doenças Renais Císticas/genética , Fator 1-beta Nuclear de Hepatócito/genética , Hiperglicemia/genética , Mutação , Fenótipo , Polimorfismo Genético/genética , Brasil , Estudos de Coortes , Deleção de Genes , Nefropatias Diabéticas/complicações , Doenças Renais Císticas/complicações , Hiperglicemia/complicações
2.
Arch. endocrinol. metab. (Online) ; 61(6): 637-642, Dec. 2017. tab, graf
Artigo em Inglês | LILACS | ID: biblio-887620

RESUMO

SUMMARY Identification of the correct etiology of diabetes brings important implications for clinical management. In this report, we describe a case of a 4-year old asymptomatic girl with diabetes since age 2, along with several individuals in her family with different etiologies for hyperglycemia identified in youth. Genetic analyses were made by Sanger sequencing, laboratory measurements included HbA1c, lipid profile, fasting C-peptide, pancreatic auto-antibodies (glutamic acid decarboxylase [GAD], Islet Antigen 2 [IA-2], and anti-insulin). We found a Gly178Ala substitution in exon 5 of GCK gene in three individuals co-segregating with diabetes, and type 1 diabetes was identified in two other individuals based on clinical and laboratory data. One individual with previous gestational diabetes and other with prediabetes were also described. We discuss difficulties in defining etiology of hyperglycemia in youth in clinical practice, especially monogenic forms of diabetes, in spite of the availability of several genetic, laboratory, and clinical tools.


Assuntos
Humanos , Masculino , Feminino , Pré-Escolar , Adulto , Pessoa de Meia-Idade , Idoso , Proteínas Serina-Treonina Quinases/genética , Predisposição Genética para Doença , Diabetes Mellitus/genética , Fator 1-alfa Nuclear de Hepatócito/genética , Fator 4 Nuclear de Hepatócito/genética , Linhagem , Testes Genéticos , Diabetes Mellitus/classificação , Quinases do Centro Germinativo , Genótipo , Mutação
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