Abstract：
Multicentric carpotarsal osteolysis syndrome (MCTO) is a rare skeletal disorder characterized by progressive osteolysis involving the carpal and tarsal bones, and often associated with nephropathy. It is caused by heterozygous mutation in the MAF bZIP transcription factor B (MAFB) gene. Heterogeneous clinical manifestation and wide spectrum of disease severity have been observed in patients with MCTO. Here, we report a case of a male patient who presented with kidney failure in childhood with progressive disabling skeletal deformity. He was diagnosed with MCTO at 31-years-old, where a de novo pathogenic heterozygous variant in NM_005461.5:c.212C>A: p.(Pro71His) of the MAFB gene was identified. While there has been little data on the long-term prognosis and life expectancy of this disease, this case report sheds light on the debilitating disease course with multiple significant morbidities of a patient with MCTO throughout his lifetime of 33 years.
摘要：
多中心腕骨骨溶解综合征（MCTO）是一种罕见的骨骼疾病，其特征是累及腕骨和tal骨的进行性骨溶解，常与肾病有关。它是由MAFbZIP转录因子B（MAFB）基因的杂合突变引起的。在MCTO患者中已经观察到不同的临床表现和广泛的疾病严重程度。这里,我们报告了一例男性患者，该患者在儿童期出现肾衰竭，并伴有进行性致残性骨骼畸形。他31岁时被诊断出患有MCTO，其中鉴定了MAFB基因的NM_005461.5：c.212C>A：p。（Pro71His）中的从头致病性杂合变体。虽然关于这种疾病的长期预后和预期寿命的数据很少，本病例报告揭示了一名MCTO患者在33年的一生中出现多种重大疾病的衰弱病程.
