HNF1B mutation in a Turkish child with renal and exocrine pancreas insufficiency, diabetes and liver disease.
Pediatr Diabetes
; 13(2): e1-5, 2012 Mar.
Article
en En
| MEDLINE
| ID: mdl-21767339
ABSTRACT
A small-for-gestational age female infant presented with bilateral hypoplastic kidneys at 3 months of age. She developed chronic renal insufficiency. Insulin-requiring, non-autoimmune diabetes was documented at 6 years of age. She had mild steatosis and iron deposition in the liver, and mal-development of pancreas. Genetic studies revealed a heterozygous mutation (S148L) of the HNF1B gene, compatible with an HNF1B-MODY phenotype (MODY5). This is the first case of HNF1B-MODY reported from Turkey and represents a particularly severe phenotype of the disease.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Insuficiencia Pancreática Exocrina
/
Diabetes Mellitus Tipo 1
/
Insuficiencia Renal
/
Factor Nuclear 1-beta del Hepatocito
/
Hepatopatías
/
Mutación
Límite:
Female
/
Humans
/
Infant
/
Newborn
País/Región como asunto:
Asia
Idioma:
En
Revista:
Pediatr Diabetes
Asunto de la revista:
ENDOCRINOLOGIA
Año:
2012
Tipo del documento:
Article
País de afiliación:
Turquía