Slow progression of renal failure in a child with infantile cystinosis
Cystinosis is a rare autosomal recessive lysosomal transport disorder, characterized by the accumulation of the aminoacid cystine and progressive dysfunction of several organs. Kidneys are severely affected, and the most frequent form, infantile nephropathic cystinosis, presents with growth failure in infancy, renal Fanconi syndrome and end-stage renal disease by the first decade of life. We report of a girl with infantile nephropathic cystinosis that has reached adolescence without the need of renal replacement therapy and without extrarenal manifestations despite her delayed diagnosis and treatment initiation. The girl with this intermediate phenotype was found to have compound heterozygosity of one known (1015G > A) and one novel (587_588insA) mutation in CTNS gene. Our case points to the wide clinical presentation of infantile nephropathic cystinosis and suggest that long-term outcome is not always ominous as generally thought.
KeywordsCystinosis Novel mutation CTNS gene Disease progression
Compliance with ethical standards
Conflict of interest
The authors have no conflict of interest to declare.
Informed consent was obtained from all individual participants included in the study.
- 9.Touchman JW, Anikster Y, Dietrich NL, Maduro VV, McDowell G, Shotelersuk V, et al. The genomic region encompassing the nephropathic cystinosis gene (CTNS): complete sequencing of a 200-kb segment and discovery of a novel gene within the common cystinosis-causing deletion. Genome Res. 2000;10:165–73.CrossRefPubMedPubMedCentralGoogle Scholar