RESUMO
Background: Cystinosis is a multisystemic disease caused by the accumulation of cystine crystals in the kidney and many other organs. This disease most often involves children. Recent developments in the treatment procedures have improved the chance of patients surviving as long as puberty. This study discusses the importance of immediate diagnosis and early treatment of the disease with cystagon, which reduces gastrointestinal complications in such patients. Methods: This descriptive study was performed on 19 adult patients (over 18 years old) with cystinosis who were observed by nephrologists from medical universities throughout Iran. Gastrointestinal complications were studied in the patients. Data were analyzed using SPSS Version 22. Results: The mean age of patients at the time of enrollment was 23.89 ± 5.06 years. Seventeen (89.4%) patients of this group had received renal replacement therapy (3 dialysis, 14 renal transplantation) due to end-stage renal disease and 2 (10.5%) of them were in stages 2 and 3 of chronic kidney disease. Three patients (15.7%) had hepatomegaly and splenomegaly; liver enzymes were normal in all patients. One patient (5.2%) had increased portal vein flow velocities, 2 of the patients (10.5%) underwent percutaneous endoscopic gastrostomy implantation due to severe dysphagia and eventually died. Most gastrointestinal symptoms in patients were nausea and abdominal pain. Conclusion: Early diagnosis and treatment with the proper dose of cystagon can increase life expectancy, reduce complications, and improve the patient's quality of life.
RESUMO
BACKGROUND: Thromboembolism is one of the most important and dangerous complications of nephrotic syndrome. This study aimed to determine the value of albumin, anti-thrombin III, fibrinogen and D-dimer factors in the prediction of asymptomatic pulmonary embolism in patients with nephrotic syndrome in non-remission period. METHODS: Plasma levels of albumin, anti-thrombin III, fibrinogen and D-dimer were assessed in 30 nephrotic children in non-remission period (including new case-patient or relapse period), and the results were compared with chest X-ray and lung perfusion scintigraphy (Q scan). RESULTS: The mean age of patients was 6.22 ± 3.5 years (range 2-12 years). Of patients, 23.3% had abnormal findings in perfusion scan suggestive of pulmonary emboli despite absence of any respiratory manifestations. Median plasma albumin and anti-thrombin III levels in patients with asymptomatic pulmonary embolism were lower than in patients without pulmonary embolism. Also, median fibrinogen and D-dimer levels in patients with asymptomatic pulmonary embolism were higher than in patients without pulmonary embolism, with no statistically significant differences between sex, age, hemoglobin and hematocrit of patients and lung perfusion scan results. CONCLUSION: Patients with abnormal blood levels of albumin (< 3.5 g/dl), anti-thrombin III (< 80 ml/dl), fibrinogen (> 400 ml/dl) and D-dimer (> 0.5 µg/dl) underwent CXR/Q scan and were treated with heparin if there was pulmonary embolism.
