A patient with cystinosis presenting transient features of Bartter syndrome
A 16-month-old boy was admitted to the clinic because of vomiting and growth failure. His weight and height measurements were under the fifth percentile. He had fair hair and skin, enlarged wrists and rachitic rosaries. The presence of metabolic alkalosis, hypokalemia, hypochloremia, and high...
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| Format: | Article |
| Language: | English |
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Hacettepe University Institute of Child Health
2006-07-01
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| Series: | The Turkish Journal of Pediatrics |
| Online Access: | https://turkjpediatr.org/article/view/2641 |
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| _version_ | 1849705724532228096 |
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| author | Bilal Yildiz Sultan Durmuş-Aydoğdu Nurdan Kural Kismet Bildirici Hikmet Başmak Coşkun Yarar |
| author_facet | Bilal Yildiz Sultan Durmuş-Aydoğdu Nurdan Kural Kismet Bildirici Hikmet Başmak Coşkun Yarar |
| author_sort | Bilal Yildiz |
| collection | DOAJ |
| description |
A 16-month-old boy was admitted to the clinic because of vomiting and growth failure. His weight and height measurements were under the fifth percentile. He had fair hair and skin, enlarged wrists and rachitic rosaries. The presence of metabolic alkalosis, hypokalemia, hypochloremia, and high renin and aldosterone levels were suggestive of Bartter syndrome. However, in view of the growth failure, fair hair and skin, proteinuria, polyuria and active rickets, cystinosis was considered. Bone marrow smear examination was normal, despite the existence of suspicious crystals in the cornea. Cystine crystals were seen in the conjunctiva biopsy and increased leukocyte cystine level was measured; therefore, definitive cystinosis diagnosis was made. Renal Fanconi syndrome with metabolic acidosis is prominent in cystinosis; however, in rare instances, if sodium-dependent trans-tubular transport defect is present, patients could have Bartter syndrome findings such as hypochloremic metabolic alkalosis. Our case is a good example demonstrating that metabolic alkalosis should not exclude cystinosis and the other signs and symptoms of the patient should be thoroughly evaluated.
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| format | Article |
| id | doaj-art-03be8c8c927642f19163d09cbb19081d |
| institution | DOAJ |
| issn | 0041-4301 2791-6421 |
| language | English |
| publishDate | 2006-07-01 |
| publisher | Hacettepe University Institute of Child Health |
| record_format | Article |
| series | The Turkish Journal of Pediatrics |
| spelling | doaj-art-03be8c8c927642f19163d09cbb19081d2025-08-20T03:16:23ZengHacettepe University Institute of Child HealthThe Turkish Journal of Pediatrics0041-43012791-64212006-07-01483A patient with cystinosis presenting transient features of Bartter syndromeBilal Yildiz0Sultan Durmuş-AydoğduNurdan KuralKismet BildiriciHikmet BaşmakCoşkun YararDepartment of Pediatrics, Osmangazi University Faculty of Medicine, Eskişehir, Turkey. A 16-month-old boy was admitted to the clinic because of vomiting and growth failure. His weight and height measurements were under the fifth percentile. He had fair hair and skin, enlarged wrists and rachitic rosaries. The presence of metabolic alkalosis, hypokalemia, hypochloremia, and high renin and aldosterone levels were suggestive of Bartter syndrome. However, in view of the growth failure, fair hair and skin, proteinuria, polyuria and active rickets, cystinosis was considered. Bone marrow smear examination was normal, despite the existence of suspicious crystals in the cornea. Cystine crystals were seen in the conjunctiva biopsy and increased leukocyte cystine level was measured; therefore, definitive cystinosis diagnosis was made. Renal Fanconi syndrome with metabolic acidosis is prominent in cystinosis; however, in rare instances, if sodium-dependent trans-tubular transport defect is present, patients could have Bartter syndrome findings such as hypochloremic metabolic alkalosis. Our case is a good example demonstrating that metabolic alkalosis should not exclude cystinosis and the other signs and symptoms of the patient should be thoroughly evaluated. https://turkjpediatr.org/article/view/2641 |
| spellingShingle | Bilal Yildiz Sultan Durmuş-Aydoğdu Nurdan Kural Kismet Bildirici Hikmet Başmak Coşkun Yarar A patient with cystinosis presenting transient features of Bartter syndrome The Turkish Journal of Pediatrics |
| title | A patient with cystinosis presenting transient features of Bartter syndrome |
| title_full | A patient with cystinosis presenting transient features of Bartter syndrome |
| title_fullStr | A patient with cystinosis presenting transient features of Bartter syndrome |
| title_full_unstemmed | A patient with cystinosis presenting transient features of Bartter syndrome |
| title_short | A patient with cystinosis presenting transient features of Bartter syndrome |
| title_sort | patient with cystinosis presenting transient features of bartter syndrome |
| url | https://turkjpediatr.org/article/view/2641 |
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