Cystinosis in the Federal Republic of Germany. Coordination and analysis of the data

Manz, Friedrich; Gretz, Norbert

doi:10.1007/bf01805472

Cited by 26 publications

(8 citation statements)

References 5 publications

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“…More than 20 years ago, patients died from uncontrolled water and electrolyte disturbances, as well as from uremia. 26,32 Renal complications are improved by cysteamine. Cysteamine makes it possible to delay the occurrence of ESRD if therapy is introduced before the age of 5 years.…”

Section: Discussionmentioning

confidence: 99%

Cysteamine therapy delays the progression of nephropathic cystinosis in late adolescents and adults

Brodin-Sartorius

Tête

Niaudet

et al. 2012

Kidney International

176

210

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Nephropathic cystinosis is a multisystem autosomal recessive disease caused by cystine accumulation, which is usually treated by oral cysteamine. In order to determine long-term effects of this therapy, we enrolled 86 adult patients (mean age 26.7 years) diagnosed with nephropathic cystinosis, 75 of whom received cysteamine. Therapy was initiated at a mean age of 9.9 years with a mean duration of 17.4 years. By last follow-up, 78 patients had end-stage renal disease (mean age 11.1 years), 62 had hypothyroidism (mean age 13.4), 48 developed diabetes (mean age 17.1 years), and 32 had neuromuscular disorders (mean age 23.3 years). Initiating cysteamine therapy before 5 years of age significantly decreased the incidence and delayed the onset of end-stage renal disease, and significantly delayed the onset of hypothyroidism, diabetes, and neuromuscular disorders. The development of diabetes and hypothyroidism was still significantly delayed, however, in patients in whom therapy was initiated after 5 years of age, compared with untreated patients. The life expectancy was significantly improved in cysteamine-treated versus untreated patients. Thus, cysteamine decreases and delays the onset of complications and improves life expectancy in cystinosis. Hence, cysteamine therapy should be introduced as early as possible during childhood and maintained lifelong.

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Section: Discussionmentioning

confidence: 99%

Cysteamine therapy delays the progression of nephropathic cystinosis in late adolescents and adults

Brodin-Sartorius

Tête

Niaudet

et al. 2012

Kidney International

176

210

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“…Nationwide birth prevalence data concerning cystinosis are only reported in few populations. The overall incidence rates reported in France [ 9 ], Australia [ 10 ], Germany [ 11 ], Denmark [ 12 ] and Sweden [ 13 ] were 1:167,000, 1: 192,000, 1: 179,000, 1:115,000 and 1:260,000 live births, respectively. Higher incidence rate is observed in selected populations with detected founder mutations as in the province of Brittany, France (1:26,000 live births) [ 14 ] or in the Saguenay-Lac-St-Jean, Quebec, Canada (1:62,500 live births) [ 15 ].…”

Section: Introductionmentioning

confidence: 99%

Cystinosis: a review

Elmonem

Veys

Soliman

et al. 2016

Orphanet J Rare Dis

219

244

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Cystinosis is the most common hereditary cause of renal Fanconi syndrome in children. It is an autosomal recessive lysosomal storage disorder caused by mutations in the CTNS gene encoding for the carrier protein cystinosin, transporting cystine out of the lysosomal compartment. Defective cystinosin function leads to intra-lysosomal cystine accumulation in all body cells and organs. The kidneys are initially affected during the first year of life through proximal tubular damage followed by progressive glomerular damage and end stage renal failure during mid-childhood if not treated. Other affected organs include eyes, thyroid, pancreas, gonads, muscles and CNS. Leucocyte cystine assay is the cornerstone for both diagnosis and therapeutic monitoring of the disease. Several lines of treatment are available for cystinosis including the cystine depleting agent cysteamine, renal replacement therapy, hormonal therapy and others; however, no curative treatment is yet available. In the current review we will discuss the most important clinical features of the disease, advantages and disadvantages of the current diagnostic and therapeutic options and the main topics of future research in cystinosis.

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“…Cystine-depletion therapy with cysteamine allows significant improvement in life expectancy [ 14 , 18 ], but cannot prevent the development of CKD and other systemic complications, and needs to be continued after kidney transplantation [ 7 ]. Recent data have demonstrated that lysosomal cystine accumulation is not the only pathological event related to the absence of functional cystinosin [ 19 ], which might explain why treatment with cysteamine is not curative.…”

Section: Introductionmentioning

confidence: 99%

Biomarkers in Nephropathic Cystinosis: Current and Future Perspectives

Emma

Montini

Pennesi

et al. 2022

Cells

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Early diagnosis and effective therapy are essential for improving the overall prognosis and quality of life of patients with nephropathic cystinosis. The severity of kidney dysfunction and the multi-organ involvement as a consequence of the increased intracellular concentration of cystine highlight the necessity of accurate monitoring of intracellular cystine to guarantee effective treatment of the disease. Cystine depletion is the only available treatment, which should begin immediately after diagnosis, and not discontinued, to significantly slow progression of renal and extra-renal organ damage. This review aims to discuss the importance of the close monitoring of intracellular cystine concentration to optimize cystine depletion therapy. In addition, the role of new biomarkers in the management of the disease, from timely diagnosis to implementing treatment during follow-up, is overviewed.

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Cystinosis in the Federal Republic of Germany. Coordination and analysis of the data

Cited by 26 publications

References 5 publications

Cysteamine therapy delays the progression of nephropathic cystinosis in late adolescents and adults

Cysteamine therapy delays the progression of nephropathic cystinosis in late adolescents and adults

Cystinosis: a review

Biomarkers in Nephropathic Cystinosis: Current and Future Perspectives

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