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Background:
There are several clinical reports about the co-occurrence of autosomal dominant polycystic kidney disease (ADPKD) and connective tissue disorders. A simultaneous occurrence of osteogenesis imperfecta (OI) type I and ADPKD has not been observed so far.
This report presents the first patient with OI type I and ADPKD.
Results:
Mutational analysis of PKD1 and COL1A1 in the index patient revealed a heterozygous mutation in each of the two genes. Mutational analysis of the parents indicated the mother as a carrier of the PKD1 mutation and the father as a carrier of the COL1A1 mutation. The simultaneous occurrence of both disorders has an estimated frequency of 3.5:100 000 000.
Conclusion:
In singular cases, ADPKD can occur in combination with other rare disorders, e.g. connective tissue disorders.
Key words: kidney disease; osteogenesis imperfect; polycystic kidney
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