Infantile Nephropathic Cystinosis in Sulaimani Pediatric Teaching Hospital: A Retrospective Cohort Study (original) (raw)
2018, Kurdistan Journal of Applied Research
Cystinosis is a rare metabolic autosomal recessive disorder which characterized by intralysosomal accumulation of cystine. There are three forms; infantile nephropathic is the commonest forms. to evaluate clinical presentations and outcome of infantile cystinosis. A retrospective cohort study conducted in Sulaimani Pediatric Teaching Hospital on 25 patients with infantile cystinosis during May 1, 2014, to June 1, 2017. This study has depended on clinical symptoms and signs, and corneal crystallization for the diagnosis of cystinosis. Gender of the patients was 13 (52%) females and 12 (48%) males. The ages were ranged between (1-12 years) with a mean age of (6.25 years). Eight (32%) patients were from Sulaimani city, but the other 17 (68%) patients were from outside of Sulaimani. Moreover, a 17 (68%) of them were Arabic and the other eight (32%) were Kurdish ethnic groups. The study showed a 20 (80%) positive consanguinity with 19 (76%) positive family history of infantile cystinosis...
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