RESUMO
BACKGROUND Congenital chloride diarrhea (CCD) is an autosomal recessive disease that is usually diagnosed in early childhood. Mutations in the SLC26A3 gene have been attributed to the primary etiology of disease development. Patients with CCD usually present with electrolyte disturbances, metabolic alkalosis, and chronic diarrhea. Early diagnosis is essential to prevent long-term complications that often require genetic testing. Bartter syndrome is another congenital disorder that has clinical features similar to CCD, which might cause a delay in diagnosis in a few patients. CASE REPORT We describe the case of a 28-year-old man who was misdiagnosed as having Bartter syndrome when he was 5 months old based on the clinical features of hypokalemia, metabolic alkalosis, and a family history of Bartter syndrome. He had multiple admissions with diarrhea and was diagnosed with ulcerative colitis. Unfortunately, the course was complicated by renal failure, and the patient underwent a kidney transplant. Persistent metabolic alkalosis with diarrhea after transplantation was unusual in Bartter syndrome. Therefore, his primary diagnosis was challenged and suspicion of CCD was raised, which was confirmed by genetic testing. CONCLUSIONS CCD is a rare congenital disorder that requires high clinical suspicion and often a genetic test to confirm diagnosis. Here, we report a patient who was misdiagnosed as having Bartter syndrome until early adulthood owing to several misleading factors. We hope by reporting this case it will raise awareness about CCD in high-prevalence areas and the importance of early diagnosis to prevent serious complications.
Assuntos
Alcalose , Síndrome de Bartter , Colite Ulcerativa , Adulto , Alcalose/complicações , Alcalose/etiologia , Síndrome de Bartter/complicações , Síndrome de Bartter/diagnóstico , Síndrome de Bartter/genética , Pré-Escolar , Colite Ulcerativa/complicações , Colite Ulcerativa/diagnóstico , Erros de Diagnóstico , Diarreia/congênito , Diarreia/diagnóstico , Humanos , Lactente , Masculino , Erros Inatos do MetabolismoRESUMO
The adverse effects of coronavirus disease 2019 (COVID-19) vaccines are somewhat common but rarely life-threatening. Diagnosing life-threatening vaccine-related adverse effects is heavily dependent on history taking and ruling out the other possible causes. Vaccine-related complications vary, so awareness of possible complications can lead to efficient management. We present the case of a 58-year-old woman with a history of schizophrenia who received the COVID-19 Pfizer vaccine and developed severe rhabdomyolysis. She required renal replacement therapy and fully recovered with possible transient autoimmune activity. This case highlights the importance of early awareness of adverse effects following vaccine administration and careful history taking and monitoring to avoid life-threatening conditions.
RESUMO
PURPOSE: This study was carried out because intragastric balloon (IGB) is a widely used method to combat obesity, and acute pancreatitis complicating IGB is rare and yet to be understood. METHOD: This study was a retrospective analysis of all patients with a history of IGB insertion, who developed acute pancreatitis before balloon removal. RESULTS: A total of 4 cases were found, with a mean age of 27±2.9 years. The mean duration of IGB insertion was 2.25±1.25 months, with an average body mass index of 37.7±3.4 kg/m. Abdominal computed tomography visualized signs of pancreatitis with the balloon compressing the pancreatic body. Pancreatitis resolved after endoscopic balloon extraction, with an average aspiration of 607.5±64.5 mL of the fluid used to fill the balloon. CONCLUSION: Our study demonstrates that acute pancreatitis can complicate IGB and recommends the need to measure amylase and lipase in patients who have a history of IGB insertion and present with a picture suggestive of pancreatitis.