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Implementing Patch Clamp and Live Fluorescence Microscopy to Monitor Functional Properties of Freshly Isolated PKD Epithelium
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NIH conference. Cystinosis: progress in a prototypic disease

W A Gahl, J G Thoene, J A Schneider

    Annals of Internal Medicine
    |October 1, 1988
    PubMed

    Insights

    Nephropathic cystinosis, a lysosomal storage disease, can be managed with oral cysteamine. This treatment improves growth and delays kidney failure in children, potentially preventing long-term complications.

    Area of Science:

    • Biochemistry
    • Genetics
    • Pediatrics

    Background:

    • Nephropathic cystinosis is a rare, inherited lysosomal storage disease characterized by the accumulation of cystine within lysosomes.
    • The primary defect involves impaired lysosomal cystine efflux, leading to cellular damage and multisystemic manifestations, including renal failure and Fanconi syndrome.

    Purpose of the Study:

    • To review the comprehensive aspects of nephropathic cystinosis, encompassing its history, underlying defect, pathogenesis, clinical features, diagnostic approaches, and therapeutic strategies.
    • To evaluate the efficacy of oral cysteamine therapy in managing nephropathic cystinosis in children before and after renal transplantation.

    Main Methods:

    • A review incorporating lysosomal membrane transport studies and clinical reports.
    • A historically controlled 7-year trial of oral cysteamine therapy in 148 children (0-12 years) with nephropathic cystinosis before renal transplant.
    • Evaluation of 34 post-transplant patients (9-29 years) receiving oral cysteamine and symptomatic treatment for late complications.

    Main Results:

    • Oral cysteamine significantly reduced leukocyte cystine levels by over 80%.
    • In pre-transplant patients, cysteamine improved growth and preserved renal function compared to controls.
    • Topical cysteamine eyedrops effectively cleared corneal cystine crystals in young children.

    Conclusions:

    • Cystinosis is a treatable lysosomal storage disorder with oral cysteamine offering significant benefits.
    • Early intervention with oral cysteamine in children can improve growth and delay or prevent renal deterioration.
    • Long-term oral cysteamine therapy may help prevent non-renal complications following renal transplantation.
    Abstract

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