End-stage renal failure as manifestation of adolescent cystinosis

Marx, Michaela; Plank, Christian; Zimmermann, Bettina; Graupner, Maike; Kiehntopf, Michael; Dötsch, Jörg

doi:10.1007/s00431-003-1395-4

Cited by 6 publications

(2 citation statements)

References 7 publications

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“…The arrow marks the site of the deletion. The sequence in the rectangle corresponds to the deleted sequence growth in the first decade and minimal acidosis, but presented with end-stage renal failure at the age 13.6 years [11].…”

Section: Discussionmentioning

confidence: 99%

Natural history of adolescent-onset cystinosis

et al. 2011

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Cystinosis is a rare autosomal recessive disease caused by mutations of the CTNS gene in which cystine accumulates throughout the body as a result of a defective efflux of cystine from lysosomes. Three phenotypic forms have been described according to the age of onset and the severity of the clinical symptoms: infantile, intermediate, and ocular non-nephropathic cystinosis. Here we report the natural history of cystinosis in a 55-year-old man with intermediate nephropathic cystinosis diagnosed at 9 years of age. Although tubulopathy was unnoticed in the early years, he required transplantation at age 16. Sequencing analysis of all the CTNS exons revealed that the proband is homozygous for a 21-bp in-frame deletion in exon 5 (c. 198_218del21), resulting in an in-frame deletion of 7 amino acids from the N-terminal domain of the cystinosin protein. Our patient has had relatively mild extra-renal disease despite lack of early cysteamine therapy. He has been able to attend university and pursue a professional career into the 6th decade.

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Section: Discussionmentioning

confidence: 99%

Natural history of adolescent-onset cystinosis

et al. 2011

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“…Renal biopsy data are available for approximately 15 patients from published studies (13,(25)(26)(27)(28)(29)(30)(31)(32)(33). Crystals were seen in three of the four biopsies carried out in our series.…”

Section: Discussionmentioning

confidence: 99%

Late-Onset Nephropathic Cystinosis

Servais

Morinière

Grünfeld

et al. 2008

Clinical Journal of the American Society of Nephrology

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Background and objectives: Cystinosis is an autosomal recessive disease characterized by the intralysosomal accumulation of cystine, as a result of a defect in cystine transport across the lysosomal membrane. Three clinical forms have been described on the basis of severity of symptoms and age of onset: infantile cystinosis, characterized by renal proximal tubulopathy and progression to end-stage renal disease before 12 yr of age; juvenile form, with a markedly slower rate of progression; and adult form, with only ocular abnormalities.Design, setting, participants, & measurements: Fourteen patients in nine unrelated families with noninfantile cystinosis were studied. Information about clinical outcome, biochemical data, renal histopathologic data, and genotyping was collected.Results: Eight patients had Fanconi syndrome. Proteinuria was present in all patients. Serum creatinine at last follow-up, without specific treatment, ranged between 69 and 450 mol/L, at an age of 12 to 56 yr. Four patients reached end-stage renal disease by 12 to 28 yr. Renal biopsies, available in four cases, disclosed focal segmental glomerulosclerosis in three and crystals in three. Genetic screening showed that patients were compound heterozygous for mutations in the CTNS gene in four families and homozygous in two families. Patients had at least one "mild" mutation. A single heterozygous mutation was identified in one family and none in two families (only 72% mutations found).Conclusion: Renal involvement is heterogeneous in patients with noninfantile cystinosis even within families, and renal disease should be assessed even in families of patients with seemingly isolated ocular forms.

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Lysosomal Storage Diseases

Pastores¹

2012

Swaiman's Pediatric Neurology

784

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End-stage renal failure as manifestation of adolescent cystinosis

Cited by 6 publications

References 7 publications

Natural history of adolescent-onset cystinosis

Natural history of adolescent-onset cystinosis

Late-Onset Nephropathic Cystinosis

Lysosomal Storage Diseases

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