Pediatrics Department, Hospital de São Bernardo, Centro Hospitalar de Setúbal, EPE, Setubal, Portugal.
Pediatrics Department, Hospital de São Bernardo, Centro Hospitalar de Setúbal, EPE, Setubal, Portugal
BMJ Case Rep. 2022 Apr 6;15(4):e249135. doi: 10.1136/bcr-2022-249135.
Hyperimmunoglobulinaemia D syndrome (HIDS) is a rare autosomal recessive disorder caused by mutations in the mevalonate kinase (MVK) gene, located on chromosome 12. The most common mutation identified in MVK gene so far is V377I. Compound heterozygotes that include this variant may exhibit a more severe phenotype of the disease and homozygotes are rarely found in clinical practice probably they express a milder phenotype. HIDS is a chronic autoinflammatory disease characterised by recurrent febrile episodes, associated with lymphadenopathies, abdominal pain, rash and arthritis. These flares can be triggered by vaccination, minor trauma, surgery and stress.We report a case of a 2-year-old girl who had recurrent attacks of fever associated with cervical lymphadenopathy, macular erythematous skin rash, abdominal pain and aphthous ulcers in the mouth. The patient was found to excrete elevated amounts of urinary mevalonic acid and a homozygous V337I mutation in the MVK gene was identified.
高免疫球蛋白 D 血症（HIDS）是一种罕见的常染色体隐性遗传病，由位于 12 号染色体上的甲羟戊酸激酶（MVK）基因突变引起。迄今为止，在 MVK 基因中发现的最常见突变是 V377I。包含这种变体的复合杂合子可能表现出更严重的疾病表型，而纯合子在临床上很少见，可能表现出较轻的表型。HIDS 是一种慢性自身炎症性疾病，其特征是反复发作的发热，伴有淋巴结病、腹痛、皮疹和关节炎。这些发作可由疫苗接种、轻微创伤、手术和应激引起。我们报告了一例 2 岁女孩，她反复发作发热，伴有颈淋巴结病、红斑性斑疹、腹痛和口腔阿弗他溃疡。发现患者尿中有大量的异戊烯酸排泄，并且在 MVK 基因中发现了纯合子 V337I 突变。
