Pycnodysostosis with a Cathepsin K Mutation : A Case Report

概要

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Pycnodysostosis (PKND) is a type of osteosclerosing bone disease. Recent studies have demonstrated that several cathepsin K mutations can be identified in PKND families. A fifty-three-year-old Japanese woman diagnosed with PKND with typical features suffered from the nonunion of the right tibial shaft. We did open reduction and performed a vascularized fibular graft using an external fixator. A low-intensity pulsed ultrasound device was used three months after surgery. Union of the tibia was completed about one year after surgery. Histomorphometric analysis of the iliac bone revealed that the patient had low turnover bone with increased bone volume. Analysis of the cathepsin K coding region from the genomic DNA of the patient and her family (consanguineous parents and three sisters who were all of normal stature) revealed that the patient had a deletion of genomic DNA nucleotide 426 T in exon 5. Her parents and two sisters had a heterozygous mutation, while one sister had a normal sequence. In summary, a mutation in the cathepsin K gene was identified, providing further evidence that a deficiency in the activity of this enzyme causes PKND.
新潟大学の論文