Searching for mutations in the HNF1B gene in a Brazilian cohort with renal cysts and hyperglycemia.
Arch Endocrinol Metab
; 63(3): 250-257, 2019.
Article
en En
| MEDLINE
| ID: mdl-31066763
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 ANDMETHODS:
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).
Texto completo:
1
Bases de datos:
MEDLINE
Asunto principal:
Nefropatías Diabéticas
/
Enfermedades Renales Quísticas
/
Factor Nuclear 1-beta del Hepatocito
/
Hiperglucemia
/
Mutación
Tipo de estudio:
Etiology_studies
/
Incidence_studies
/
Observational_studies
/
Risk_factors_studies
Límite:
Adult
/
Humans
/
Middle aged
País/Región como asunto:
America do sul
/
Brasil
Idioma:
En
Revista:
Arch Endocrinol Metab
Año:
2019
Tipo del documento:
Article
País de afiliación:
Brasil