Natural History of Symptomatically Treated Children with Cystinosis


ABSTRACT:BACKGROUND:Cystinosis is an autosomal recessive disorder of lysosomal transport of cystine . Nephropathic (infantile) cystinosis is the most common and the most severe clinical expression of the disease .OBJECTIVE:To highlight the natural history of symptomatically treated children with cystinosisPATIENTS AND METHODS :A retrospective study was done on cystinotic patients who were diagnosed and treated symptomatically in children welfare teaching hospital in Baghdad from period Jun 2002 –July 2011.RESULTS:Twenty nine patients ,19 (66%)males and 10(34%) females who were diagnosed as cystinosis and treated symptomatically were included in the study; their ages ranged between (0.6 -12 ) years median 4 years . the age of onset of symptoms of tubular dysfunction ranged from (0.3-3.5 yrs) median (1.1 yrs.), positive family history of cystinosis was found in 11(37.9 %) cases and parents were consanguineous in 25 (86.2%) families.All patients presented with history of polyuria, polydypsia, anorexia, vomiting, constipation and failure to thrive.Rickets was found in 22(75%)and photophobia was found in 19 (65.5%) patients.Follow up data showed renal insufficiency in eighteen patients(62%) at a median age of 9(4-12) years ,hypothyroidism diagnosed in one patient(3.44%)at the age of 11 years , six (20.68%) patients died , three (10.3%)patients secondary to renal failure .CONCLUSION AND RECOMMENDATIONS:Cystinosis causes extensive morbidity and death in childhood and because of high rates of consanguineous marriages in our society ,we encourage a high index of suspicion in infants presenting with fluid and electrolyte loss aiming at early diagnosis and treatment of cystinosis . leukocyte cystine levels is still needed to be available to confirm diagnosis in infants who have negative ocular examination .and to win in the fight against this terrible disease cysteamine treatment need to be available for these patients