Abstract | OBJECTIVE: MATERIAL AND METHODS: RESULTS: Haplotype analysis showed that 16 families had defects in the PKD1 gene and one had defects in the PKD2 gene. Three families were excluded because of uninformative haplotypes. The final study population consisted of 79 unaffected family members, 109 patients with defects in the PKD1 gene and 10 with defects in the PKD2 gene. Higher prevalences of hepatic cysts (3% in healthy relatives, 60% in PKD1 patients and 90% in PKD2 patients; p < 0.001), subarachnoid hemorrhage or cerebral aneurysms (1%, 12% and 0%, respectively; p < 0.001), proteinuria (1%, 23% and 0%, respectively; p < 0.001) and hematuria (5%, 30% and 0%, respectively; p < 0.001) were found in PKD1 patients compared to the healthy relatives. PKD1 patients had a faster progression of kidney disease than PKD2 patients (p < 0.001). The progression of kidney disease varied substantially among the PKD1 families. CONCLUSION: The relative proportions of PKD1 and PKD2 patients and the phenotype of ADPKD were similar in our Finnish patients compared to previous studies in other populations. However, the progression of kidney disease differed substantially among PKD1 families, indicating a heterogeneic genetic background of PKD1 in Finnish patients.
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Authors | Anne Lumiaho, Risto Ikäheimo, Jussi Pihlajamäki, Raija Miettinen, Lea Niemitukia, Ritva Vanninen, Erkki Lampainen, Markku Laakso |
Journal | Scandinavian journal of urology and nephrology
(Scand J Urol Nephrol)
Vol. 37
Issue 4
Pg. 352-8
( 2003)
ISSN: 0036-5599 [Print] England |
PMID | 12944197
(Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
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Chemical References |
- Membrane Proteins
- Proteins
- TRPP Cation Channels
- polycystic kidney disease 1 protein
- polycystic kidney disease 2 protein
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Topics |
- Adolescent
- Adult
- Aged
- Disease Progression
- Female
- Finland
- Haplotypes
- Humans
- Male
- Membrane Proteins
(genetics)
- Middle Aged
- Mutation
- Phenotype
- Polycystic Kidney, Autosomal Dominant
(diagnosis, genetics, physiopathology)
- Proteins
(genetics)
- TRPP Cation Channels
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