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

This 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.