Abstract | BACKGROUND: METHODS: The HNF-1beta gene was screened for mutations in four members of an Italian family with early-onset, nonketotic diabetes or a familiar, nondiabetic renal disease and nonprogressive liver disorder. RESULTS: The genetic analysis revealed an already described nonsense mutation in codon 177 of HNF-1beta gene (R177X) in the four related subjects. Clinical features included diabetes in three of four patients, monolateral renal hypoplasia with cysts in the controlateral kidney in two patients, and bilaterally small hyperechoic kidneys without cysts in the other two patients. Renal function impairment was severe in one patient, requiring dialysis treatment, and mild in three. Three patients had nonprogressive liver dysfunction, with long-lasting enzyme alterations but no liver insufficiency or jaundice. CONCLUSION:
HNF-1beta gene mutations are associated with a wide variability in severity and pattern of clinical symptoms within the same kindred regarding diabetes and renal impairment. Moderate liver dysfunction may be a so far overlooked component of the syndrome.
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Authors | Alberto Montoli, Giacomo Colussi, Ornella Massa, Roberta Caccia, Gianfranco Rizzoni, Giovanni Civati, Fabrizio Barbetti |
Journal | American journal of kidney diseases : the official journal of the National Kidney Foundation
(Am J Kidney Dis)
Vol. 40
Issue 2
Pg. 397-402
(Aug 2002)
ISSN: 1523-6838 [Electronic] United States |
PMID | 12148114
(Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't, Review)
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Chemical References |
- Codon
- DNA-Binding Proteins
- HNF1B protein, human
- Transcription Factors
- Hepatocyte Nuclear Factor 1-beta
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Topics |
- Adult
- Codon
(genetics)
- DNA-Binding Proteins
(genetics)
- Diabetes Mellitus, Type 2
(genetics)
- Female
- Genitalia
(abnormalities)
- Hepatocyte Nuclear Factor 1-beta
- Humans
- Kidney Diseases, Cystic
(genetics)
- Liver Diseases
(genetics, physiopathology)
- Male
- Middle Aged
- Mutation, Missense
(genetics)
- Pedigree
- Syndrome
- Transcription Factors
(genetics)
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