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Late symptoms in infantile cystinosis
M Broyer1, M J Tete, M C Gubler
1Département de Pédiatrie, Hôpital des Enfants Malades, Paris, France.
Insights
Late-diagnosed infantile cystinosis patients show significant extra-renal complications post-kidney transplant, impacting growth, vision, and endocrine function. Psychosocial adjustment depends more on these complications than renal status.
Area of Science:
- Nephrology
- Pediatric Endocrinology
- Ophthalmology
Background:
- Infantile cystinosis is a rare genetic disorder causing lysosomal accumulation of cystine.
- Kidney transplantation is a common treatment for end-stage renal disease in cystinosis patients.
- Long-term outcomes and late-emerging complications in transplanted cystinosis survivors are not well-characterized.
Purpose of the Study:
- To evaluate the late-emerging symptoms and long-term complications in patients with infantile cystinosis who underwent kidney transplantation.
- To assess the impact of extra-renal manifestations on the quality of life and psychosocial adjustment in this cohort.
Main Methods:
- Retrospective evaluation of 19 patients (aged 15-26 years) with infantile cystinosis and successful kidney graft survival.
- Analysis of clinical data including renal function, ophthalmological status, endocrine disorders, liver and spleen status, neurological complications, and psychosocial adjustment.
Main Results:
- High graft survival was observed, but patients experienced significant extra-renal complications: renal hypertension (n=5), blindness (n=3), hypothyroidism (n=17), diabetes mellitus (n=6), liver enlargement (n=10), hypersplenism (n=6), epistaxis (n=7), and encephalopathy (n=2).
- Adult height was significantly reduced (males: 136.5 cm, females: 124 cm).
- Psychosocial adjustment was correlated with extra-renal complications, not renal status.
Conclusions:
- Despite successful kidney transplantation, patients with infantile cystinosis face a high burden of late-emerging extra-renal complications.
- These complications significantly affect growth, vision, endocrine function, and neurological status, influencing psychosocial well-being.
- Multidisciplinary management is crucial for addressing the complex long-term needs of cystinosis survivors.
Abstract:
Late symptoms of infantile cystinosis were evaluated in 19 patients aged 15-26 years who had a high graft survival following kidney transplantation. The end-stage cystinotic kidney was responsible for renal hypertension in 5 patients following grafts. Photophobia did not increase in relation to age, but 3 patients became blind and 1 lost the sight in one eye at 25 years of age. Two patients developed clinical symptoms of hypothyroidism, and 15 other patients had a compensated hypothyroidism. Four patients developed permanent insulin-dependent diabetes and 2 developed transient insulin-dependent diabetes after transplantation. The oral glucose tolerance test was abnormal in 11 of 14 patients on low-dose prednisone. Liver enlargement was noted in 10 cases, but only 3 patients developed clinical symptoms of portal hypertension. Symptoms of hypersplenism were observed in 6 cases leading to splenectomy. Repeat gross epistaxis was observed in 7 of the patients when on dialysis and persisted after transplantation in 1 patient, who died from nasal bleeding. A particular encephalopathy developed in 2 patients at the ages of 17 and 24, characterized by speech difficulties, pyramidal symptoms and cranial nerve deficit; one died at the age of 21. The mean adult height of these patients was 136.5 cm in males and 124 cm in females, and their psychosocial adjustment was related to the extra-renal complications of cystinosis rather than to the renal status.