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Growth and pubertal development in nephropathic cystinosis
1Department of Paediatric Nephrology and Metabolic Disorders, Children's Hospital, Medical School Hannover, Federal Republic of Germany.
European Journal of Pediatrics
|March 1, 1993
Summary
Nephropathic cystinosis patients experienced delayed puberty and impaired growth. Kidney transplantation with specific immunosuppressants promoted catch-up growth, while adult males may develop hypergonadotropic hypogonadism.
Area of Science:
- Pediatric Endocrinology
- Nephrology
- Genetics
Background:
- Nephropathic cystinosis is a rare genetic disorder affecting multiple organs, including kidneys.
- Growth and pubertal development are significantly impacted in patients with this condition.
Purpose of the Study:
- To evaluate growth and pubertal development in patients with nephropathic cystinosis.
- To assess the impact of chronic kidney insufficiency and kidney transplantation on growth.
- To investigate pubertal development and hormonal profiles in affected individuals.
Main Methods:
- Retrospective analysis of 30 patients with nephropathic cystinosis.
- Evaluation of growth rates in relation to glomerular filtration rate (GFR).
- Assessment of pubertal development and hormonal levels (gonadotropins, estradiol, testosterone) in 17 patients.
Main Results:
- Prepubertal growth velocity SDS remained stable above a GFR of 20 ml/min/1.73m2 but decreased below this threshold.
- Successful catch-up growth was observed post-kidney transplantation with cyclosporine A and low-dose prednisolone, but not with azathioprine and high-dose prednisolone.
- Delayed puberty onset occurred in all patients; adult males showed elevated gonadotropins and low-normal testosterone, suggesting hypergonadotropic hypogonadism.
Conclusions:
- Kidney function is critical for maintaining growth velocity in nephropathic cystinosis.
- Specific immunosuppressive regimens post-transplantation can facilitate catch-up growth.
- Adult males with nephropathic cystinosis are at risk for developing hypergonadotropic hypogonadism.