Baysal Bakır Damla, Asilsoy Suna, Uzuner Nevin, Yağmur Halime, Kabadayı Gizem, Torun Rüya, Kızıldağ Karabacak Zehra, Işık Esra, Süncak Suzan
Division of Pediatric Allergy and Immunology, Department of Child Health and Diseases, Faculty of Medicine Hospital, Dokuz Eylul University, Mithatpaşa Street, Number: 1606, Inciraltı, BalçovaIzmir, Turkey.
Division of Pediatric Rheumatology, Department of Child Health and Diseases, Faculty of Medicine Hospital, Dokuz Eylul University, Izmir, Turkey.
Immunol Res. 2024 Dec;72(6):1432-1440. doi: 10.1007/s12026-024-09541-1. Epub 2024 Sep 19.
We report a pediatric patient with prolidase deficiency, caused by a mutation in the PEPD gene, which encodes the enzyme prolidase D, with a lupus-like clinic and marked dysmorphic features along with pulmonary, neurological, skeletal, and immune system involvement. In addition to being the first known case in the literature where Friedrich's ataxia and prolidase deficiency were observed together, we aimed to highlight that this diagnosis should be considered in patients with autoimmunity and additional systemic findings such as treatment-resistant skin lesions, intellectual disability, and pulmonary manifestations. Furthermore, we sought to compare this case with others documented in the literature.
我们报告了一名患有脯氨肽酶缺乏症的儿科患者，该疾病由PEPD基因突变引起，该基因编码脯氨肽酶D，患者具有狼疮样临床表现、明显的畸形特征，并伴有肺部、神经、骨骼和免疫系统受累。除了是文献中首次报道的同时观察到弗里德里希共济失调和脯氨肽酶缺乏症的病例外，我们旨在强调，对于患有自身免疫性疾病以及有其他全身表现（如治疗抵抗性皮肤病变、智力残疾和肺部表现）的患者，应考虑这一诊断。此外，我们试图将该病例与文献中记载的其他病例进行比较。
