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Turkish Society for Pediatric Endocrinology and Diabetes
Cystinosis Presenting with Findings of Bartter Syndrome [J Clin Res Pediatr Endocrinol]
J Clin Res Pediatr Endocrinol. 2011; 3(2): 101-104 | DOI: 10.4274/jcrpe.v3i2.21

Cystinosis Presenting with Findings of Bartter Syndrome

Behzat Özkan1, Atilla Çayır1, Celalettin Koşan2, Handan Alp3
1Atatürk University, Department Of Pediatric Endocrinology, Erzurum, Turkey
2Atatürk University, Department Of Pediatric Nephrology, Erzurum, Turkey
3Atatürk University, Department Of Pediatrics, Erzurum, Turkey

A five-year-old boy was referred to our pediatric clinic for evaluation of failure to thrive, headache, intermittent high fever, restlessness, polyuria, and polydipsia. His weight and height measurements were under the 3rd percentile. Clinical findings consisted of frontal bossing, carious teeth, O-bain deformity of the lower extremities, and moderate dehydration. The presence of metabolic alkalosis, hypokalemia, hypochloremia, and high renin and aldosterone levels were suggestive of Bartter syndrome and a treatment regimen for Bartter syndrome was started. At follow-up, the polyuria and hyponatremia were found to persist. A reassessment of the patient revealed findings consistent with proximal renal tubular acidosis such as metabolic acidosis with a high urinary pH, proteinuria, aminoaciduria with phosphaturia and hypercalciuria. Based on the presence of parental consanguinity as well as polyuria, proteinuria, low tubular reabsorption of phosphorus, generalized aminoaciduria, light yellow skin and hair color, the probable diagnosis of cystinosis was established and was confirmed by slit-lamp examination of the cornea showing cystine crystal deposition. Our case is a good example demonstrating that development of metabolic alkalosis does not exclude cystinosis and that all findings of the patient should be thoroughly evaluated.

Keywords: Cystinosis,bartter syndrome,metabolic alkalosis

Behzat Özkan, Atilla Çayır, Celalettin Koşan, Handan Alp. Cystinosis Presenting with Findings of Bartter Syndrome. J Clin Res Pediatr Endocrinol. 2011; 3(2): 101-104
Manuscript Language: English
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