{"id":647616,"date":"2023-04-17T19:22:01","date_gmt":"2023-04-17T19:22:01","guid":{"rendered":"https:\/\/www.abnewswire.com\/pressreleases\/?p=647616"},"modified":"2023-04-17T19:22:01","modified_gmt":"2023-04-17T19:22:01","slug":"nephropathic-cystinosis-market-analysis-of-epidemiology-pipeline-therapies-and-key-companies-working-in-the-market","status":"publish","type":"post","link":"https:\/\/www.abnewswire.com\/pressreleases\/nephropathic-cystinosis-market-analysis-of-epidemiology-pipeline-therapies-and-key-companies-working-in-the-market_647616.html","title":{"rendered":"Nephropathic Cystinosis Market: Analysis of Epidemiology, Pipeline Therapies, and Key Companies Working in the Market"},"content":{"rendered":"
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\"Nephropathic<\/a><\/div>\n
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DelveInsight Business Research LLP <\/div>\n<\/div>\n<\/div>\n
DelveInsight’s “Nephropathic Cystinosis Market Insights, Epidemiology, and Market Forecast-2032” report delivers an in-depth understanding of the Nephropathic Cystinosis, historical and forecasted epidemiology as well as the Nephropathic Cystinosis market trends in the United States, EU4(Germany, Spain, Italy, France, and United Kingdom) and Japan.<\/div>\n

DelveInsight’s “Nephropathic Cystinosis Market Insights, Epidemiology, and Market Forecast-2032<\/a><\/strong>” report delivers an in-depth understanding of the Nephropathic Cystinosis, historical and forecasted epidemiology as well as the Nephropathic Cystinosis market trends in the United States, EU5 (Germany, Spain, Italy, France, and United Kingdom) and Japan.<\/p>\n

The Nephropathic Cystinosis market report provides current treatment practices, emerging drugs, Nephropathic Cystinosis market share of the individual therapies, current and forecasted Nephropathic Cystinosis market Size from 2019 to 2032 segmented by seven major markets. The Report also covers current Nephropathic Cystinosis treatment practice\/algorithm, market drivers, market barriers, and unmet medical needs to curate the best of the opportunities and assesses the underlying potential of the Nephropathic Cystinosis market.<\/p>\n

Got queries? Click here to learn more about the Nephropathic Cystinosis Market Landscape<\/a><\/strong><\/p>\n

Nephropathic Cystinosis Overview<\/strong><\/p>\n

Nephropathic cystinosis is a rare autosomal recessive lysosomal storage disorder leading to end-stage renal disease and many extra-renal complications with crystal deposition in the conjunctiva and cornea being the most prominent.<\/p>\n

Cystinosis is caused by mutations in the CTNS gene, which encodes the protein cystinosis. Cystinosis is thought to be an H+-driven lysosomal cystine transporter. Genotype–phenotype studies demonstrate that patients with severe nephropathic cystinosis carry mutations that lead to complete loss of cystinosis function. Patients with milder clinical diseases have mutations that lead to the expression of partially functional proteins. Patients with nephropathic cystinosis present with clinical manifestations reflecting their pronounced tubular dysfunction and Fanconi syndrome, including polyuria and polydipsia, growth failure, and rickets. Fever, caused by dehydration or diminished sweat production, is common. Patients are typically fair-skinned and blond because of diminished pigmentation. Ocular presentations include photophobia, retinopathy, and impaired visual acuity. Patients also can develop hypothyroidism, hepatosplenomegaly, and delayed sexual maturation. With progressive tubulointerstitial fibrosis, renal insufficiency is invariant.<\/p>\n

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Nephropathic Cystinosis Epidemiology Insights<\/strong><\/p>\n

Cystinosis is a rare autosomal-recessive lysosomal storage disease with an incidence of ∼0.5–1.0 per 100 000 live births. Although phenotypes may overlap, three clinical forms are recognized. The most severe and frequent form, affecting ∼95% of patients, is termed infantile nephropathic cystinosis (OMIM 219800); patients generally develop clinical symptoms related to renal Fanconi syndrome during the first year of life. Juvenile or late-onset nephropathic cystinosis (OMIM 219900) is usually diagnosed later in childhood or during adolescence; patients present with milder forms of renal Fanconi syndrome or with isolated proteinuria. Finally, the ocular or adult form (OMIM 219750) is characterized by isolated symptoms related to corneal cystine crystal depositions and is rarely diagnosed before adulthood <\/p>\n

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Nephropathic Cystinosis Epidemiology Segmentation<\/strong><\/p>\n