Beneficial effects of starting oral cysteamine treatment in the first 2 months of life on glomerular and tubular kidney function in infantile nephropathic cystinosis.

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.
Authors	Katharina Hohenfellner, Christina Nießl, Dieter Haffner, Jun Oh, Christine Okorn, Katja Palm, Karl-Peter Schlingmann, Simone Wygoda, William Allen Gahl
Journal	Molecular genetics and metabolism (Mol Genet Metab) Vol. 136 Issue 4 Pg. 282-288 (08 2022) ISSN: 1096-7206 [Electronic] United States
PMID	35843134 (Publication Type: Journal Article, Research Support, N.I.H., Intramural, Research Support, Non-U.S. Gov't)
Copyright	Copyright © 2022 The Authors. Published by Elsevier Inc. All rights reserved.
Chemical References	Cystine Cysteamine
Topics	Cysteamine (therapeutic use) Cystine Cystinosis (complications, drug therapy) Fanconi Syndrome (complications, diagnosis, drug therapy) Humans Infant Infant, Newborn Kidney

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