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Bartter syndrome and hypothyroidism masquerading cystinosis in a 3-year-old girl: rare manifestation of a rare disease
- Source :
- BMJ Case Reports. 14:e242954
- Publication Year :
- 2021
- Publisher :
- BMJ, 2021.
-
Abstract
- Cystinosis is a multisystem disorder with varied presentations secondary to deposition of cystine crystals in different organ systems. Children with cystinosis typically present with renal tubular acidosis and failure to thrive. We report a 3-year-old girl, born to a third-degree consanguineous couple, who presented with failure to thrive and polyuria. Laboratory investigations showed metabolic alkalosis suggestive of a Bartter-like syndrome and acquired hypothyroidism. Although metabolic alkalosis is a rare manifestation of cystinosis, the presence of renal tubular dysfunction and hypothyroidism prompted consideration of a probable diagnosis of cystinosis in the index child. Slit-lamp examination revealed cystine crystals in the cornea and genetic analysis showed a mutation in exon 9 of the CTNS (cystinosin, lysosomal cystine transporter) gene on chromosome 17. We highlight the importance of considering cystinosis as a differential diagnosis for Bartter syndrome and hypothyroidism.
- Subjects :
- 0301 basic medicine
Pediatrics
medicine.medical_specialty
endocrine system diseases
Cystinosis
Metabolic alkalosis
Bartter syndrome
Renal tubular acidosis
03 medical and health sciences
Rare Diseases
0302 clinical medicine
Hypothyroidism
Renal tubular dysfunction
030225 pediatrics
medicine
Humans
Child
business.industry
Bartter Syndrome
Acidosis, Renal Tubular
General Medicine
medicine.disease
030104 developmental biology
Cystinosin
Child, Preschool
Failure to thrive
Female
medicine.symptom
business
Rare disease
Subjects
Details
- ISSN :
- 1757790X
- Volume :
- 14
- Database :
- OpenAIRE
- Journal :
- BMJ Case Reports
- Accession number :
- edsair.doi.dedup.....3cde3f961c2c47a517a02d0d0767ef58
- Full Text :
- https://doi.org/10.1136/bcr-2021-242954