Gastrointestinal Manifestations of Adult Cystinosis in Iran: A Descriptive Study

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.

Body growth, upper arm fat area, and clinical parameters in children with nephropathic cystinosis compared with other pediatric chronic kidney disease entities

“…It is known that INC patients display impaired growth accompanied by low weight. 11 Gastrointestinal symptoms such as poor appetite and nausea are highly prevalent in INC patients, 35 probably contributing to impaired weight gain. Since treatment protocols in our patient cohort included regular dietary advice and, if necessary, tube feeding, additional factors contributing to low BMI and UFA apart from poor caloric intake are likely.…”

“…INC patients showed an overall lower BMI and UFA than CKD controls indicating reduced body fat stores. It is known that INC patients display impaired growth accompanied by low weight 11 . Gastrointestinal symptoms such as poor appetite and nausea are highly prevalent in INC patients, 35 probably contributing to impaired weight gain.…”

“…In addition, an intrinsic osteoblast and osteoclast defect is thought to contribute to impaired bone health in INC patients 9,10 . With reduced height, low weight is frequently seen in INC patients suggesting reduced lean mass and/or reduced body fat stores 4,11 . Recent data demonstrated that children with CKD, especially those with congenital CKD, are prone to develop disproportionate short stature characterized by a preferential impairment of leg length and rather preserved trunk length 12‐14 .…”

“…9,10 With reduced height, low weight is frequently seen in INC patients suggesting reduced lean mass and/or reduced body fat stores. 4,11 Recent data demonstrated that children with CKD, especially those with congenital CKD, are prone to develop disproportionate short stature characterized by a preferential impairment of leg length and rather preserved trunk length. [12][13][14] To the best of our knowledge, body proportions and body fat stores related to age and stage of CKD have not yet been systematically assessed in children with INC.…”

Hepatomegaly and Splenomegaly: An Approach to the Diagnosis of Lysosomal Storage Diseases

“…Mucolipidosis II alpha/beta [45] Mucolipidosis III alpha/beta [45] GNPTAB ++ (+) Nephropathic Cystinosis [46] Late-onset nephropathic cystinosis [47] CTNS + (+/−) Free sialic acid storage disease [48] SLC17A5 + Niemann-Pick type C [49] NPC1, NPC2 HSM is a common feature of mucopolysaccharidoses (MPSs) type I-VII, ASMD, lysosomal acid lipase deficiency (Wolman disease in children or CESD in adults), GM1 gangliosidosis type I, mucolipidosis type II, galactosialidosis, saposin C deficiency, NPC, and Gaucher disease. It is rare in other LSDs such as aspartylglucosaminuria and Sandhoff, whereas, it is absent in metachromatic leukodystrophy, among others.…”