Chaabouni Rim, Amouri Meriem, Chaari Chiraz, Bouattour Yosra, Sellami Khadija, Bahloul Zouheir, Boudawara Tahiya, Turki Hamida
Service de dermatologie, hôpital Hédi-Chaker, route El Ain, km 0,5, 3029 Sfax, Tunisie.
Service de dermatologie, hôpital Hédi-Chaker, route El Ain, km 0,5, 3029 Sfax, Tunisie.
Nephrol Ther. 2022 Apr;18(2):136-139. doi: 10.1016/j.nephro.2021.08.005. Epub 2021 Nov 24.
Recessive dystrophic epidermolysis bullosa is a rare genetic condition characterized by fragile skin and mucous membrane, caused by mutations in the COL7A1 gene. AA amyloidosis is a rare complication of these genodermatosis.
Two patients with recessive dystrophic epidermolysis bullosa, generalized severe in the first case and generalized intermediate in the second case, developed at the age of 38 and 28, respectively, nephrotic syndrome. The diagnosis of secondary renal amyloidosis was confirmed by renal biopsy in the first case and by minor salivary gland biopsy in the second case. Death occurred 2 months after diagnosis in both cases.
Renal involvement is quite common in AA amyloidosis in patients with recessive dystrophic epidermolysis bullosa. Nephrotic syndrome and rapid decline in renal function renal are characteristic features. The prognosis is poor due to underlying conditions and the lack of an etiological treatment.
隐性营养不良型大疱性表皮松解症是一种罕见的遗传性疾病，其特征为皮肤和黏膜脆弱，由COL7A1基因突变引起。AA淀粉样变性是这些遗传性皮肤病的一种罕见并发症。
两名隐性营养不良型大疱性表皮松解症患者，第一例为全身重度，第二例为全身中度，分别在38岁和28岁时出现肾病综合征。第一例经肾活检、第二例经小唾液腺活检确诊为继发性肾淀粉样变性。两例患者均在诊断后2个月死亡。
在隐性营养不良型大疱性表皮松解症患者的AA淀粉样变性中，肾脏受累相当常见。肾病综合征和肾功能迅速下降是其特征性表现。由于基础疾病和缺乏病因治疗，预后较差。
