Fatal nephrobronchial fistula arising from xanthogranulomatous pyelonephritis: a case report.

Introduction: Nephrobronchial fistula is an exceptionally rare complication of renal infections, including the uncommon xanthogranulomatous pyelonephritis. Existing literature is limited to a few case reports, with antibiotic therapy and nephrectomy being the preferred treatments. Case: We present the case of a 63-year-old woman with a history of recurrent xanthogranulomatous pyelonephritis in her right kidney, requiring drainage through lumbotomy. She presented with a chronic dry cough and weight loss, without other noticeable symptoms. Imaging suggested a pulmonary abscess and nephrobronchial fistula. Despite antibiotic treatment and surgical intervention, her condition progressed fatally. Conclusion: Nephrobronchial fistulas are extremely complications of renal infections, often presenting with nonspecific symptoms. This case highlights their significant impact on morbidity and mortality, especially in resource-limited settings, and underscoring the urgent need for prompt diagnosis and treatment.

Case Report: Expanding the phenotypic spectrum of PURA syndrome in South America with the first presentation of concurrent vitiligo.

Purine-rich element-binding protein A (PURα) regulates multiple cellular processes. Rare de novo mutations can lead to PURA syndrome, which manifests as a range of multisystem disturbances, including hypotonia, global developmental delay, swallowing disorders, apnea, seizures, visual impairments, and congenital heart defects. We report the case of a Colombian girl with no relevant medical history who was diagnosed with PURA syndrome at the age of 7, due to a heterozygous mutation located at 5q31.2, specifically the variant c.697_699del (p.Phe233del), in exon 1 of the PURA gene. This represents the first documented case of PURA syndrome in South America and the first association of the syndrome with vitiligo, thereby expanding the known phenotypic spectrum. In addition to enriching the literature concerning the phenotypic diversity of PURA syndrome, this report highlights, for the first time, the diagnostic challenges faced by developing countries like Colombia in diagnosing high-burden rare diseases such as PURA syndrome.