Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz
Gewählte Publikation:
Mache, CJ; Preisegger, KH; Kopp, S; Ratschek, M; Ring, E.
De novo HNF-1 beta gene mutation in familial hypoplastic glomerulocystic kidney disease.
Pediatr Nephrol. 2002; 17(12):1021-1026
Doi: 10.1007/s00467-002-0975-2
(- Case Report)
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- Führende Autor*innen der Med Uni Graz
- Mache Christoph
- Co-Autor*innen der Med Uni Graz
- Preisegger Karl Heinz
- Ratschek Manfred
- Ring Ekkehard
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- Abstract:
- Mutations in the gene encoding the transcription factor hepatocyte nuclear factor (HNF)-1 beta are associated with maturity-onset diabetes of the young (type V), non-diabetic renal disease, and occasionally genital malformations in females. Recently, familial hypoplastic glomerulocystic kidney disease (GCKD) has been added to the clinical spectrum of HNF-1 beta gene mutations. Familial hypoplastic GCKD is a rare, dominantly inherited disorder characterized by small kidneys containing glomerular cysts, abnormal pelvicalyceal anatomy, and chronic renal failure. A family with hypoplastic GCKD occurring in the father and the daughter was screened for mutations in the HNF-1 beta gene. The sequence of exon 4 of the HNF-1 beta gene revealed a C insertion at codon 334 resulting in a frameshift mutation (P334fsinsC) in two family members. The P334fsinsC allele co-segregated with hypoplastic GCKD in the family. Oral glucose tolerance testing was normal in the 11-year-old girl. In her 38-year-old father, impaired glucose tolerance was detected. These studies provide further evidence that familial hypoplastic GCKD is associated with HNF-1 beta gene mutations. HNF-1 beta gene mutation screening may prove useful in patients with small cystic kidneys and chronic renal failure, in whom a definite renal diagnosis could otherwise only be established by renal biopsy.
- Find related publications in this database (using NLM MeSH Indexing)
- Austria -
- DNA - biosynthesis
- DNA-Binding Proteins - biosynthesis
- Female - biosynthesis
- Frameshift Mutation - genetics
- Hepatocyte Nuclear Factor 1 - genetics
- Hepatocyte Nuclear Factor 1-alpha - genetics
- Hepatocyte Nuclear Factor 1-beta - genetics
- Humans - genetics
- Infant - genetics
- Kidney Diseases - genetics
- Kidney Failure, Chronic - etiology
- Kidney Glomerulus - pathology
- Male - pathology
- Nuclear Proteins - pathology
- Pedigree - pathology
- Reverse Transcriptase Polymerase Chain Reaction - pathology
- Transcription Factors - genetics
- Find related publications in this database (Keywords)
- glomerulocystic kidney disease
- genetics
- hepatocyte nuclear factor-1 beta
- impaired glucose tolerance
- maturity-onset diabetes of the young