Hernández-Martínez Claudia, Guzmán-Martínez Mara Noemí, Scheffler-Mendoza Selma, Espinosa-Padilla Sara Elva, Sobacchi Cristina, Blancas-Galicia Lizbeth
Secretaría de Salud, Instituto Nacional de Pediatría, Unidad de Investigación en Inmunodeficiencias, Ciudad de México, México.
Rev Alerg Mex. 2018 Jan-Mar;65(1):108-116. doi: 10.29262/ram.v65i1.314.
Osteopetrosis is a heterogeneous group of diseases that are characterized by increased bone density due to abnormalities in osteoclast differentiation or function, which result in a lack of bone resorption.
Two patients with osteopetrosis onset since the first months of life, with facial dysmorphia, blindness, deafness, hepatosplenomegaly, hypotonia, neurodevelopmental retardation and bicytopenia. Bone radiographs showed osteosclerosis. They were assessed by different specialists prior to definitive diagnosis. Genetic analysis determined mutations in the TCIRG1 gene. Patient 1 had a homozygous mutation for p.Ile720Alafs14 identified, which hasn't been previously reported. Patient 2 had a compound heterozygous mutation: the first one, p.Phe459Leufs79, and the second one, p.Gly159Argfs*68, none of which has been previously reported as far as we know.
The only therapeutic option for patients with osteopetrosis is hematopoietic stem cell transplantation (HSCT), which should be carried out in the course of the first 3 months of life, before neurological damage occurs. Although osteopetrosis diagnosis is relatively simple, it is delayed owing to the lack of clinical suspicion.
骨质石化症是一组异质性疾病，其特征是由于破骨细胞分化或功能异常导致骨密度增加，进而引起骨吸收缺乏。
两名自出生后最初几个月起病的骨质石化症患者，有面部畸形、失明、失聪、肝脾肿大、肌张力减退、神经发育迟缓及双血细胞减少。骨X光片显示骨质硬化。在明确诊断之前，他们接受了不同专家的评估。基因分析确定了TCIRG1基因的突变。患者1被鉴定出有p.Ile720Alafs14的纯合突变，此前未曾报道过。患者2有复合杂合突变：第一个是p.Phe459Leufs79，第二个是p.Gly159Argfs*68，据我们所知，此前均未报道过。
骨质石化症患者唯一的治疗选择是造血干细胞移植（HSCT），应在出生后的前3个月内、神经损伤发生之前进行。尽管骨质石化症的诊断相对简单，但由于缺乏临床怀疑而被延误。
