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Iranian Journal of Kidney Diseases، جلد ۱۹، شماره ۰۵، صفحات ۲۶۰-۲۷۱
عنوان فارسی
چکیده فارسی مقاله
کلیدواژه‌های فارسی مقاله
عنوان انگلیسی A Report on Nephropathic Cystinosis in Iran- A Scoping Review
چکیده انگلیسی مقاله Cystinosis  is  a  rare  lysosomal  disease  affecting  all  organs.  The outcome  and  the  quality  of  life  varies  depending  on  the  early diagnosis, patient adherence to medication, and regular follow up. There is lack of enough evidence about cystinosis patients in Iran. In this review, we are going to find the incidence and prevalence, the  age  at  diagnosis,  clinical  presentation,  the  comorbidities, and  the  outcome  of  disease  in  Iranian  children.  We  searched  all available  database  of  Iran  published  between  January  1994  and January 2023. The search was filtered for the Iranian population. Totally  1125  cystinosis  patients  over  37  years  (between  1985  to 2023)  was  identified.  The  estimated  incidence  rate  was  1.03  per 100000 live births. The pooled prevalence was 28.3 (95%CI:14.9- 46) per  1000000  populations.  Median  age  at  presentation,  diagnosis, and  occurrence  of  end  stage  kidney  disease  were  0.73,  1.5,  and 8.3 years, respectively. The most frequent presentation that led to evaluation was failure to thrive (94%). Ophthalmic exam and bone marrow  aspiration  were  the  mostly  used  methods  for  diagnosis. The  most  common  detected  mutation  was  c.681G4A/c.681G4A. The  cysteine  level  represent  that  more  than  half  of  the  cases  did not receive correct dosage of medication. Almost 8.7% of cystinosis patients  reached  adulthood. Launching  to  transition  protocol  is mandatory  for  surviving  to  adulthood.  There  were  scant  data  in regard to extrarenal outcomes, systemic and ophthalmic medications side effects, longitudinal ophthalmic involvement reports, and the quality of life.
کلیدواژه‌های انگلیسی مقاله Nephropathic cystinosis,Cystine diseases,Cysteamine,Lysosomal storage diseases,Morbidity
نویسندگان مقاله | Nakysa Hooman
Professor of pediatric Nephrology, Aliasghar Clinical Research Development Center (AACRDC), Aliasghar Children Hospital, Department of Pediatrics, School of Medicine, Iran University of Medical Sciences, Tehran, Iran.


| Soudabeh Hosseini
Aliasghar Clinical Research Development Center, School of Medicine, Iran University of Medical Sciences, Tehran, Cellular and Molecular Research Center, Iran University of Medical Sciences, Tehran, Iran.
نشانی اینترنتی https://ijkd.org/index.php/ijkd/article/view/8201
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کد مقاله (doi) 10.61186/
زبان مقاله منتشر شده en
موضوعات مقاله منتشر شده
نوع مقاله منتشر شده REVIEW | Kidney Diseases
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