Liu Chengzhu, Xie Zhiwei, Wang Min, Chu Jinhua, Yang Linhai, Zhang Kunlong, Huang Lingling, Tu Songji, Cai Huaju, Wu Zhengyu, Wang Liyuan, Wang Ningling
Department of Pediatric Hematology and Oncology, The Second Affiliated Hospital of Anhui Medical University, Hefei, China.
Department of Hematology and Oncology, Anhui Provincial Children's Hospital, Hefei, China.
Front Pharmacol. 2025 Jul 25;16:1588003. doi: 10.3389/fphar.2025.1588003. eCollection 2025.
Spondyloenchondrodysplasia with immune dysregulation (SPENCDI) is autosomal recessive hereditary disease caused by tartrate resistant acid phosphatase 5 (ACP5) mutations. The symptoms mainly involve the bone, immune system and nervous system, and the typical manifestations are short stature, abnormal development of long diaphyseal epiphysis, flat vertebra, and prone to various autoimmune diseases. Some children have muscle spasm, mild mental retardation, intracranial calcification and other neurological manifestations. Here we reported two cases of SPENCDI caused by a new mutation in ACP5. The clinical manifestations were autoimmune hemolytic anemia, immune thrombocytopenia, abnormal bone development, intracranial calcification, short stature, and growth retardation. The patients were girls and diagnosed with SPENCDI by genetic test.
伴有免疫失调的脊椎骨骺发育不良（SPENCDI）是一种由抗酒石酸酸性磷酸酶5（ACP5）突变引起的常染色体隐性遗传病。症状主要累及骨骼、免疫系统和神经系统，典型表现为身材矮小、长骨干骺端发育异常、椎体扁平，且易患各种自身免疫性疾病。部分患儿有肌肉痉挛、轻度智力低下、颅内钙化等神经学表现。在此，我们报告了两例由ACP5新突变导致的SPENCDI病例。临床表现为自身免疫性溶血性贫血、免疫性血小板减少、骨骼发育异常、颅内钙化、身材矮小和生长发育迟缓。两名患者均为女性，通过基因检测确诊为SPENCDI。
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