Renal Failure, Spina Bifida, and Porphyria A Case Report and Review of the Literature

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dc.authorid0000-0003-2881-6522
dc.authorid0000-0002-0774-2766
dc.contributor.authorHeydari, Ayli
dc.contributor.authorKaya, Çağdaş
dc.contributor.authorSezgin, Gülbüz
dc.date.accessioned2024-10-08T14:22:56Z
dc.date.available2024-10-08T14:22:56Z
dc.date.issued2024
dc.departmentFakülteler, Tıp Fakültesi
dc.description.abstractThis case report details the complex clinical presentation of a 33-year-old female with a history of meningomyelocele spina bifida, who developed early-onset renal failure and was later diagnosed with porphyria. The patient presented with bullous lesions on sun-exposed areas, which led to the investigation of potential underlying metabolic disorders. Despite surgical interventions for spina bifida, the patient’s urinary function remained compromised, eventually progressing to stage 5 vesicourethral reflux and requiring long-term dialysis. The porphyria diagnosis was confirmed through a spot urine porphobilinogen test followed by a 24-hour urine analysis, and the specific subtype was found to be VP (Variegate Porphyria) confirmed by a genetic analysis. This case emphasizes the importance of considering porphyria in patients with unexplained dermatological and neurological symptoms, particularly when coexisting with other congenital or chronic conditions. The overlap of renal failure, spina bifida, and porphyria in this patient underscores the challenges in diagnosis and management, highlighting the need for multidisciplinary care. Early diagnosis and intervention are crucial to prevent complications and improve quality of life, particularly in rare and complex presentations such as this one. This report aims to raise awareness among clinicians about the potential for delayed diagnosis of porphyria, which can lead to severe and irreversible complications.
dc.identifier.citationHeydari, A., Kaya, Ç. ve Sezgin, G. (2024). Renal Failure, Spina Bifida, and Porphyria A Case Report and Review of the Literature, Medical & Clinical Case Report Journal, 2(3),s.1-3.
dc.identifier.doi10.51219/MCCRJ/Ayli-Heydari/121
dc.identifier.endpage3
dc.identifier.issn2584-0355
dc.identifier.issue3
dc.identifier.startpage1
dc.identifier.urihttps://hdl.handle.net/20.500.12415/12881
dc.identifier.volume2
dc.language.isoen
dc.publisherMedical &Clinical Case Report Journal
dc.relation.ispartofMedical &Clinical Case Report Journal
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı
dc.rightsinfo:eu-repo/semantics/openAccess
dc.subjectPorphyria
dc.subjectDialysis
dc.subjectMetabolic disorders
dc.subjectRenal failure
dc.subjectCase report
dc.titleRenal Failure, Spina Bifida, and Porphyria A Case Report and Review of the Literature
dc.typeArticle
dspace.entity.typePublication

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