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Year : 2022  |  Volume : 7  |  Issue : 2  |  Page : 67-72

Cystinosis and kidney: What do we know about it?

1 Department of Pediatric Nephrology, Square Hospitals Ltd, Shahbagh, Bangladesh
2 Department of Pediatric Nephrology, Bangabandhu Sheikh Mujib Medical University, Shahbagh, Bangladesh
3 Department of Pediatric Nephrology, Anwer Khan Modern Medical College Hospital, Dhanmondi, Dhaka, Bangladesh

Correspondence Address:
Dr. Md Abdul Qader
Square Hospitals Ltd, 18/F, Bir Uttam Qazi Nuruzzaman Sarak, West Panthapath, Dhaka-1205
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/pnjb.pnjb_6_22

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Cystinosis is the most common cause of renal Fanconi syndrome caused by defective CTNS gene resulting accumulation of cystine in the lysosomes of multiple organs of the body. Although Cystinosis can affect multiple organs, but kidney is the primary organ affected. After kidney, it affects eyes and can cause retinopathy and blindness. Patients can have hypothyroidism, diabetes mellitus and gonadal dysfunction in males secondary to cystine crystal deposition in thyroid, pancreas, and gonads respectively. The most common form is the infantile nephropathic cystinosis may presents with features of Fanconi syndrome. Other rare forms include juvenile form which have mild Fanconi syndrome and adult-onset ocular form of cystinosis. Diagnosis of cystinosis can be confirmed by a slit lamp examination to find corneal cystine crystal deposition, genetic tests for CTNS gene and leukocyte cystine level both for diagnosis and monitoring of the therapy. Children with cystinosis need specific therapy to delay the progression of the disease with the advancement of clinical research, newer therapies are under clinical trial and hematopoietic stem cell transplantation shows promising results including improvement of kidney structure and Fanconi syndrome.

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