A Rare Cause of Childhood Nephrotic Syndrome: AA Amyloidosis in Epidermolysis Bullosa

儿童肾病综合征的一种罕见病因:大疱性表皮松解症合并AA型淀粉样变性

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Abstract

Epidermolysis bullosa (EB) is a rare, heterogeneous, hereditary, chronic skin disorder with severe cutaneous and extracutaneous involvement. With the significant increase in survival of EB patients, kidney complications have become more common. Among the EB subtypes, recessive dystrophic epidermolysis bullosa (RDEB) is associated with the development of amyloidosis. Secondary amyloidosis affecting the kidneys in RDEB is fatal due to its rapid progression and difficulty in dialysis. Herein, we present the case of a six-year-old boy diagnosed with EB who was referred to our center due to nephrotic syndrome. A kidney biopsy revealed amyloidosis with positive Congo red staining and amyloid fibrils on electron microscopy. Despite undergoing hemodialysis, the patient died at home shortly afterward from an unknown cause. This case highlights the importance of a proactive approach in EB management, emphasizing disease and inflammation control to reduce the risk of amyloidosis and kidney failure.

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