Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0043346 (xeroderma pigmentosum)
 2,924 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Xeroderma pigmentosum (XP) is a rare autosomal recessive disease caused by a defect in deoxyribonucleic acid repair. Along with cutaneous symptoms, neurological symptoms are important clinical features of XP. However, information on neurogenic bladder occurrence among XP cases is rare. Herein, we describe a case of neurogenic bladder in a patient with XP type A (XPA). In this case, low bladder compliance, impaired bladder emptying, and urethral sphincter discoordination were significant cystometric findings, and frequent febrile urinary tract infection was a clinical problem. XPA patients often cannot express their symptoms because of cognitive dysfunction. Close follow-up and assessments are necessary.
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PMID:Neurogenic bladder associated with xeroderma pigmentosum type A: A case report and literature review. 3146 58