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Hypothyroidism in children with cystinosis
Archives of Disease in Childhood
|December 1, 1978
Summary
Hypothyroidism is common in children with cystinosis, affecting thyroid function and reserve. Early thyroxine treatment is recommended when thyroid-stimulating hormone (TSH) levels rise in these patients.
Area of Science:
- Pediatric Endocrinology
- Nephrology
- Endocrinology
Background:
- Cystinosis is a rare genetic disorder leading to lysosomal accumulation of cystine.
- Children with cystinosis often experience multi-organ complications, including kidney disease and potential endocrine dysfunction.
Purpose of the Study:
- To investigate the prevalence and characteristics of hypothyroidism in children with cystinosis.
- To compare thyroid function in cystinotic children with a control group of children suffering from chronic renal failure.
Main Methods:
- Studied eight children with cystinosis (various stages of renal disease) and a control group with chronic renal failure from other causes.
- Assessed thyroid function, including thyroxine (T4), free thyroxine index (FTI), and thyroid-stimulating hormone (TSH) levels.
- Evaluated TSH response to thyrotrophin-releasing hormone (TRH) stimulation to assess thyroid reserve.
Main Results:
- All children with cystinosis exhibited abnormal thyroid function (low T4/FTI in some, elevated TSH in most).
- Cystinotic patients showed a supranormal TSH response to TRH, indicating impaired thyroid reserve compared to controls.
- Thyroid supplementation improved growth velocity in only two patients, possibly influenced by puberty.
Conclusions:
- Hypothyroidism is a frequent complication in pediatric cystinosis patients.
- Monitoring TSH levels is crucial; initiating thyroxine therapy upon elevation is suggested to manage hypothyroidism.