脯氨酸肽酶缺乏综合征一例

Clinical,Pathological and Genetic Investigation on One Case of Prolidase Defect Syndrome

脯氨酸肽酶缺乏迄今已报道20余例,国内尚未见报道。我院近年发现一例。现报道于下。患者男,22岁。13岁时,右胫前下1/3处皮肤发红,后中央苍白、发黑、坏死,形成溃疡。

This paper reports prolidase defect syndrome as the first case discovered in China.The patientwas a 22—year—old man.His skin of two lower extremities and insteps revealed ulcers,photosen-sitization and telangictasis.Spleen enlarged was detected by palpation.IgG and IgA levels in bloodand lesion tissue increased markedly.T_H cell culture and BNCB skin tests indicated that function ofcellular immunity was defective markedly.Skin biopsy revealed that there were hyalinization,de-generation which was caused by precipitation of amyloid substance identified by crystal violetstaining,preliferation of capilaries,arleriolae and venulae in papilary and reticular layers of der-mis.The marriage of his parents was close relative marriage.The activity of prolidase in patient'sfather was lower than normal value.His brother has the same disease.It is recessive autosomal in-heritance revealed by pedigree analysis.The causes of the ulcer occurence and spleen enlargedwere investigated preliminarily.