Tuqan Anas R, Barabrah Anas M, Zaben Basel A, Shehadeh Mohammad Hakam, Adas Motaz M
Faculty of Medicine, Al-Quds University, Jerusalem.
Department of Internal Medicine, Palestine Medical Complex, Ramallah, Palestine.
Ann Med Surg (Lond). 2024 Jun 4;86(9):5476-5480. doi: 10.1097/MS9.0000000000001812. eCollection 2024 Sep.
Deficiency of adenosine deaminase 2 (DADA2) is a rare autosomal recessive genetic disorder caused by loss-of-function mutations in the adenosine deaminase 2 (ADA2) gene. This condition primarily manifests in pediatric cases before the age of 10 years, with sporadic cases reported in adults. ADA2 is a critical enzyme involved in macrophage differentiation and immune homeostasis. The clinical manifestations of DADA2 vary widely and can affect multiple organ systems. Our case uniquely highlights an infrequent DADA2 manifestation.
An 18-year-old female presented with right flank pain, fever, and a history of joint pain, Raynaud's phenomenon, livedo-like rash, and chronic abdominal pain. Physical examination revealed subcapsular hematoma in the right kidney. Further evaluation showed positive serologic tests for rheumatoid factor and antinuclear antibody (ANA). Genetic testing confirmed DADA2 homozygosity. The patient was discharged on the appropriate medications.
DADA2 is associated with vascular dysfunction and systemic vasculopathy. The clinical manifestations of DADA2 encompass a spectrum of organ involvement, including the skin, nervous system, gastrointestinal system, renal system, and the cardiovascular system. Early recognition and diagnosis are crucial for appropriate management.
This case report highlights the diverse clinical presentations of ADA2 deficiency, specifically focusing on bilateral renal subcapsular hematoma. This finding emphasizes the importance of considering DADA2 as a differential diagnosis in patients presenting with unexplained renal manifestations. Increased awareness of the varied clinical presentations of DADA2 will contribute to earlier diagnosis, appropriate management, and improved outcomes in patients affected by this rare genetic disorder.
腺苷脱氨酶2（DADA2）缺乏症是一种罕见的常染色体隐性遗传病，由腺苷脱氨酶2（ADA2）基因的功能丧失突变引起。这种病症主要在10岁之前的儿科病例中出现，成人中也有散发病例报道。ADA2是一种参与巨噬细胞分化和免疫稳态的关键酶。DADA2的临床表现差异很大，可影响多个器官系统。我们的病例独特地突出了一种不常见的DADA2表现。
一名18岁女性出现右侧胁腹疼痛、发热，并有关节疼痛、雷诺现象、类网状青斑皮疹和慢性腹痛病史。体格检查发现右肾包膜下血肿。进一步评估显示类风湿因子和抗核抗体（ANA）血清学检测呈阳性。基因检测证实为DADA2纯合子。患者出院时服用了适当的药物。
DADA2与血管功能障碍和系统性血管病有关。DADA2的临床表现包括一系列器官受累，包括皮肤、神经系统、胃肠道系统、肾脏系统和心血管系统。早期识别和诊断对于适当的管理至关重要。
本病例报告突出了ADA2缺乏症的多种临床表现，特别关注双侧肾包膜下血肿。这一发现强调了在出现不明原因肾脏表现的患者中考虑DADA2作为鉴别诊断的重要性。提高对DADA2各种临床表现的认识将有助于受这种罕见遗传病影响的患者早期诊断、适当管理并改善预后。
