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Gastrointestinal Manifestations of Adult Cystinosis in Iran: A Descriptive Study
Shahrbanoo Nakhaie1, Amin Sadat Sharif2, Rozita Hosseini Shamsabadi2
1Pediatric Gastrointestinal Department, Aliasghar Hospital, Iran University of Medical Sciences, Tehran, Iran.
Insights
Early diagnosis and treatment of cystinosis with cystagon significantly improve life expectancy and reduce gastrointestinal complications in affected children and adults. Prompt intervention enhances overall quality of life.
Area of Science:
- Nephrology
- Genetics
- Pediatrics
Background:
- Cystinosis is a rare genetic disorder causing cystine crystal accumulation in organs.
- It primarily affects children, leading to multisystemic complications, particularly kidney disease.
- Improved treatments now allow survival into adulthood, highlighting the need for long-term management strategies.
Purpose of the Study:
- To investigate the impact of early diagnosis and cystagon treatment on gastrointestinal complications in adult cystinosis patients.
- To assess the long-term outcomes and quality of life in individuals with cystinosis.
- To emphasize the importance of timely intervention for managing this rare disease.
Main Methods:
- A descriptive study involving 19 adult cystinosis patients (aged >18) across Iranian medical universities.
- Analysis of gastrointestinal complications, including symptoms, organ involvement, and treatment history.
- Data collected and analyzed using SPSS Version 22.
Main Results:
- The study cohort had a mean age of 23.89 years; most required renal replacement therapy (dialysis or transplantation).
- Gastrointestinal issues like hepatosplenomegaly, dysphagia, nausea, and abdominal pain were prevalent.
- Two patients with severe dysphagia died despite percutaneous endoscopic gastrostomy implantation.
Conclusions:
- Early and appropriate cystagon treatment is crucial for increasing life expectancy in cystinosis patients.
- Timely diagnosis and management can significantly reduce disease-related complications, especially gastrointestinal issues.
- Optimizing cystagon dosage improves patient quality of life and long-term outcomes.
Abstract:
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.
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