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논문분류	춘계학술대회 초록집
제목	Three Cases of Multicentric Carpotarsal Osteolysis Syndrome
저자	Peong Gang Park1, Kee Hyuck Kim2, Hye sun Hyun1, Chan Hee Lee3, Jin-Su Park3, Jeong Hae Kie4, Young Hun Choi5, Kyung Chul Moon6, Tae-Joon Cho7, Hae Il Cheong1
출판정보	2018; 2018(1):
키워드	Multicentric Carpotarsal Osteol \| idiopathic osteolysis \| MAFB gene \| focal segmental glomerular scle \| proteinuria
초록	Case Study: Background Multicentric carpotarsal osteolysis syndrome (MCTO) is characterized by progressive destruction and disappearance of carpal and tarsal bones associated with nephropathy. After causative gene MAFB was identified in 2012, few reports to date have evaluated mutational study of MCTO. Case Diagnosis This report describes three patients with genetic test-proven MCTO. A 4-year-old boy (patient 1), who had wrist and ankle joint narrowing since 2 years old, was found to have proteinuria. Kidney biopsy was consistent with focal segmental glomerulosclerosis (FSGS), and he became end-stage kidney disease 1 year after. Mutational study of MAFB gene revealed a known heterozygous mutation, c.211C>G. A 13-year-old girl (patient 2) was found to have proteinuria during medical checkup. Kidney biopsy was consistent with FSGS. Subsequent radiological findings showed diffuse joint narrowing in wrist joint. Mutational study of MAFB gene revealed a novel heterozygous mutation, c.183C>A. A 14-month-old boy (patient 3), who had progressive contracture on wrist and ankle joint since 3 months old, was found to have proteinuria. Subsequent test identified aneurysmal change in infrarenal aorta and bilateral common iliac arteries. Mutational study of MAFB gene revealed a novel heterozygous mutation, c.212C>T (p.Pro71Leu). He did not underwent kidney biopsy since his proteinuria resolved spontaneously. Conclusions We reported three MCTO patients with MAFB mutations and one of the mutations was novel. We also confirmed FSGS to be early pathologic findings in two cases. MCTO should be considered in patients with progressive bone loss concentrated primarily in carpal and tarsal bone and kidney involvement, such as proteinuria.
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