Effects of early cysteamine therapy on thyroid function and growth in nephropathic cystinosis.

Kimonis, Virginia; Troendle, James; Rose, Susan R.; Yang, Meiling; Markello, Thomas C.; Gahl, W. A.

doi:10.1210/jcem.80.11.7593434

Cited by 47 publications

(23 citation statements)

References 23 publications

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“…Although height at start of RRT slightly improved over time in NC patients, this was also observed in control patients, resulting in a persisting difference between NC and non-NC patients. This improvement of height in NC patients could be caused by increased use of recombinant growth hormone before start of RRT (27), as well as by a growth promoting effect of cysteamine (8,28,29).…”

Section: Clinical Characteristics At Start Of Rrtmentioning

confidence: 99%

Improvement in the Renal Prognosis in Nephropathic Cystinosis

Stralen¹,

Emma²,

Jager³

et al. 2011

Clinical Journal of the American Society of Nephrology

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SummaryBackground and objectives Nephropathic cystinosis (NC) is an autosomal recessive disorder occurring in one to two per 100,000 newborns. Because of the rarity of NC, long-term outcome data are scarce.Design, setting, participants, & measurements 245 NC patients from 18 countries provided data to the ESPN/ERA-EDTA registry. We matched NC patients on renal replacement therapy (RRT) to non-NC children on RRT.Results Between 1979 and 2008, mean age at the start of RRT among NC children increased by 0.15 year per calendar year (95% confidence interval, 0.10 to 0.21) from 8.8 to 12.7 years, whereas we did not observe this in non-NC children. Five-year survival after the start of RRT improved in NC patients from 86.1% (before 1990) to 100% (since 2000) as compared with the control population (89.6% and 94.0%). NC patients received a renal allograft more often (relative risk, 1.09; 95% confidence interval, 1.00 to 1.17) as compared with matched RRT children, and 5-year graft survival was better (94.0% versus 84.0%). NC dialysis patients were less often hypertensive than non-NC children matched for age, country, and dialysis modality (42.7% versus 51.7%) and had lower parathyroid hormone levels (median, 56 versus 140 pg/ml). Although height at start of RRT slightly improved during the past decade, children with NC remained significantly shorter than non-NC children at the start of RRT. ConclusionsWe demonstrated improved survival of the renal function as well as better patient and graft survival after the start of RRT in a large European cohort of NC patients over the last two decades.

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Section: Clinical Characteristics At Start Of Rrtmentioning

confidence: 99%

Improvement in the Renal Prognosis in Nephropathic Cystinosis

Stralen¹,

Emma²,

Jager³

et al. 2011

Clinical Journal of the American Society of Nephrology

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“…Cysteamine treatment, if started early and taken diligently, can stabilize glomerular function, improve growth velocity, and obviate the requirement for thyroid hormone replacement. 35,41,70,74 We have recently documented a direct correlation between years off cysteamine treatment and the frequency of cystinotic retinopathy. 91 Although oral cysteamine alleviates most of the symptoms associated with cystinosis, it has no effect on the corneal crystal accumulation, most likely due to inadequate local cysteamine concentrations.…”

Section: Treatmentmentioning

confidence: 99%

Ophthalmic Manifestations and Histopathology of Infantile Nephropathic Cystinosis: Report of a Case and Review of the Literature

Tsilou¹,

Zhou²,

Gahl³

et al. 2007

Survey of Ophthalmology

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Cystinosis is a rare autosomal recessive metabolic disorder characterized by the intracellular accumulation of cystine, the disulfide of the amino acid cysteine, in many organs and tissues. Infantile nephropathic cystinosis is the most severe phenotype. Corneal crystal accumulation and pigmentary retinopathy were originally the most commonly described ophthalmic manifestations, but successful kidney transplantation significantly changed the natural history of the disease. As cystinosis patients now live longer, long-term complications in extrarenal tissues including the eye, have become apparent. A case of an adult patient with infantile nephropathic cystinosis is reported. He presented with many long-term ocular complications of cystinosis. After 4 years of follow-up, the patient died from sepsis. Pathology of the phthisical eyes demonstrated numerous electron transparent polygonal spaces, bounded by single membrane, in corneal cells, retinal pigment epithelial cells, and even choroidal endothelial cells. The ophthalmic manifestations and pathology of infantile nephropathic cystinosis are discussed and reviewed in light of the current report and other cases in the literature.

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“…Early diagnosis and treatment with appropriate doses of cysteamine provide considerable reduction in the cystine level in the lysosomes, and in addition, may prevent development of renal dysfunction and extrarenal complications 9,10 . They also increase the growth rate.…”

mentioning

confidence: 99%