ArticleMolecular genetics and metabolism2022
Beneficial effects of starting oral cysteamine treatment in the first 2 months of life on glomerular and tubular kidney function in infantile nephropathic cystinosis.
Article in Molecular genetics and metabolism, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT05843851 (Scientific Basis for a Newborn Screening for Cystinosis and Primary Hyperoxaluria), which is not on this map. Cited by 15 papers, 1 of them a synthesis that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Scientific Basis for a Newborn Screening for Cystinosis and Primary Hyperoxaluria
Who cites it
15 citing papers in PubMed, 1 synthesis or guideline pooled it, 17 citations in OpenAlex.
- Diagnosis and management of cystinosis: systematic review for a clinical practice guideline.Orphanet journal of rare diseases · 2025Pooled it
- Cystinosis-associated metabolic bone disease: pathogenesis and outcome.Pediatric nephrology (Berlin, Germany) · 2026Review
- Clinical practice recommendations for the diagnosis and management of nephropathic cystinosis.Nature reviews. Nephrology · 2026Review
- Cystinosin regulates NaEMBO reports · 2026Article
- Improving Lifelong Comprehensive Care Coordination in Nephropathic Cystinosis: Multidisciplinary Perspectives.Kidney international reports · 2026Review
- An Extremely Low-Birth-Weight Infant With Bone Fragility Due to Fanconi Syndrome.Kidney medicine · 2026Article
- Long-term outcomes in nephropathic cystinosis: a review.Pediatric nephrology (Berlin, Germany) · 2026Review
- CystadropsOphthalmology and therapy · 2025Article
- Hypothesis: Taurine therapy of nephropathic cystinosis may correct the deficiencies of cysteamine therapy.Molecular genetics and metabolism reports · 2025Article
- Optimizing Long-Term Outcomes in Cystinosis With Comprehensive Patient-Centered Care.Kidney international reports · 2025Article
- Impact of Early Versus Late Diagnosis on Disease Progression in Cystinosis.Kidney international reports · 2025Article
- Cystinosin is involved in NabioRxiv : the preprint server for biology · 2025Article
- Ketogenic Diet and Progression of Kidney Disease in Animal Models of Nephropathic Cystinosis.Journal of the American Society of Nephrology : JASN · 2024Article
- Let Food Be Thy Medicine: Potential of Dietary Management in Cystinosis.Journal of the American Society of Nephrology : JASN · 2024Article
- Article
Corrections and comments
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Authors and funding
9 authors at 8 institutions in 2 countries.
Funding
Abstract
Nephropathic cystinosis is a rare lysosomal storage disease whose basic defect, impaired transport of cystine out of lysosomes, results in intracellular cystine storage. Affected individuals exhibit renal Fanconi Syndrome in infancy, end-stage kidney disease at approximately 10 years of age, and many other systemic complications. Oral cysteamine therapy mitigates the detrimental effects on glomerular function and prevents most of the late complications of the disease but has not shown benefit with respect to the early tubular damage of cystinosis. This is because cystinosis is generally diagnosed in the second year of life, after the damage to kidney tubular function has already occurred. We longitudinally evaluated 6 infants diagnosed and treated with cysteamine from before 2 months of age. The 4 infants with good compliance with cysteamine and consistently low leucocyte cystine levels maintained normal eGFR values, exhibited only minor degrees of renal Fanconi Syndrome, and maintained normal serum levels of potassium, bicarbonate, phosphate, and calcium without electrolyte or mineral supplementation through 2, 4, 10 and 16 years of age. Thus, renal Fanconi syndrome can be attenuated by early administration of cysteamine and renew the call for molecular-based newborn screening for cystinosis.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.