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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.
Insights
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.
Abstract:
In a retrospective investigation growth and pubertal development were evaluated in 30 patients with nephropathic cystinosis. Growth was investigated during the stage of chronic renal insufficiency as well as after successful kidney transplantation and growth rates were related to kidney function. Pubertal development was evaluated in 17 patients between 12 and 25 years of age. Prepubertal growth rates were stable in a range between -2 and -3 height velocity SDS as long as glomerular filtration rate was above 20ml/min per 1.73m2. A decrease in glomerular filtration rate below this threshold was followed by further decrease in height velocity. After kidney transplantation a significant catch-up growth was seen if immunosuppression was performed with cyclosporine A and low dose prednisolone. This did not occur if conventional therapy with azathioprine and high-dose prednisolone was used. Onset of puberty was delayed in all patients. Gonadotropin and oestradiol levels in female patients showed normal fluctuations according to ovulatory cycles. In male patients after puberty there was an increase in gonadotropin levels above the normal range for adult men while testosterone levels remained in the low normal range. These results indicate that adult men with nephropathic cystinosis may develop hypergonadotropic hypogonadism.