Successful Kidney Transplant in a Case of Cystinosis in a Young Child: A Case Report

Cystinosis is a rare autosomal recessive metabolic disorder with accumulation of intracellular cystine in different organs. Infantile nephropathic cystinosis shows a severe presentation. Kidney transplantation extends life expectancy and reduces complications. The presented case is of a 3-year-old child with Fanconi syndrome, rickets, difficulty in walking, and short stature. Corneal crystals on ophthalmic examination confirmed the diagnosis of cystinosis. He was started on oral cysteamine, topical eye drops and electrolyte supplements. By age 9, he developed kidney failure. He received a living-donor renal transplant from his mother at the age of 10. The patient is currently 14 years old with excellent graft function. Early initiation of cysteamine and kidney transplantation ensured optimal results.