Rare Presentation of Cystinosis Mimicking Bartter's Syndrome: Reports of Two Patients and Review of the Literature

Figures & data

Table 1  Patients with cystinosis presented with findings of Bartter Syndrome (review of literature)

	Berio, 1978	O'Regan, 1980	Lemire and Kaplan, 1984	Whyte, 1985	Pennesi, 2005		Yildiz, 2006	Our cases, 2009
Case number	1	2	3	4	5*	6*	7	8	9
Age at presentation	5 years	2 years	4 years	2 years	4 years 9 months	1 year 7 months	1 year 4 months	11 months	1 year 6 months
Sex	Boy	Girl	Girl	Boy	Boy	Girl	Boy	Girl	Girl
Initial complaint	Growth retardation	Growth retardation	Growth retardation, polyuria, polydipsia	Growth retardation	Extreme malnutrition, growth retardation, polyuria, polydipsia	Extreme malnutrition, growth retardation, polyuria, polydipsia	Vomiting, growth retardation	Failure to thrive, polyuria, polydipsia	Growth retardation, vomiting
Laboratory findings	Hypochloremic metabolic alkalosis	Hypochloremic metabolic alkalosis	Hypochloremia, hypokalemia, hyperreninemia	Hypochloremic metabolic alkalosis, hypokalemia, hyperreninemia and hyperaldosteronemia	Hypochloremic metabolic alkalosis, hypokalemia, hyperreninemia and hyperaldosteronemia	Hypochloremic metabolic alkalosis, hypokalemia, hyperreninemia and hyperaldosteronemia	Hypochloremic metabolic alkalosis, hypokalemia, hyperreninemia and hyperaldosteronemia	Hypochloremic metabolic alkalosis, hypokalemia, hyperreninemia and hyperaldosteronemia	Hypochloremic metabolic alkalosis, hypokalemia, hyperreninemia and hyperaldosteronemia
Initial treatment	Prostaglandin inhibitors	Prostaglandin inhibitors	Prostaglandin inhibitors, potassium chloride	Sodium and potassium chloride supplements	Prostaglandin inhibitors, potassium chloride, carnitine, phosphate, vitamin D supplements	Prostaglandin inhibitors, potassium chloride, carnitine, phosphate, multivitamin complex	Captopril, 1,25-dihydroxycholecalciferol, potassium, Joulie's solution	Prostaglandin inhibitors, potassium citrate, hydrochlorothiazide + amiloride combination	Prostaglandin inhibitors, potassium citrate.
Age at diagnosis	?	4 years	?	5 years	5 years 7 months	2 years 5 months	1 year 5 months	1 year 5 months	6 years 6 months

*Case numbers 5 and 6 were brother and sister.