Cystinuria [2 genes]

Cystinuriais a disorder inherited in an autosomal dominant/recessive pattern and characterized by reduced reabsorption of cystine, ornithine, lysine, and arginine in the proximal tubule of the kidney. Unlike other involved aminoacids, cystine has lower solubility, thereby resulting in a tendency to form calculi. There are also syndromic forms of cystinuria: 2p21 deletion syndrome and hypotonia-cystinuria syndrome (typical/atypical). As mentioned, disease
transmission can be autosomal recessive (type I, or A, phenotype) or dominant with incomplete penetrance (non-type I, or B, phenotype).

  • Renal lithiasis generally in the first three decades of life
  • Hexagonal, colorless crystals in urine

Prevalence: 1-5/10,000

  • Etiologic diagnosis
  • Genetic counseling
  • Hydration, diet, urine alkalinization, pharmacotherapy

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Three sample types: saliva, peripheral blood or genomic DNA

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Cystinuria

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Technique: NGS capture panel

Turnaround time (TAT): 25 days

Ref. S-202110333

Cystinuria: View panel
  • SLC3A1
  • SLC7A9

Priority Genes : Genes where there is sufficient evidence (clinical and functional) to consider them associated with the disease; they are included in the clinical practice guidelines.
Secondary Genes: Genes related to the disease, but with a lower level of evidence or that constitute sporadic cases.
* Candidate Genes: Not enough evidence in humans, but potentially associated with the disease.

References

  1. Castro Pereira DJ, Schoolwerth A, Pais VM. Cystinuria: current concepts and future directions. Clinical Nephrology, Vol. 83 – No. 3/2015 (138-146). PMID: 25685869 DOI: 10.5414/cn108514
  2. Barbosa M, Lopes A, Mota C, Martins E, Oliveira J, Alves S, De Bonis P, Mota Mdo C, Dias C, Rodrigues-Santos P, Fortuna AM, Quelhas D, Lacerda L, Bisceglia L, Cardoso ML. Clinical, biochemical and molecular characterization of cystinuria in a cohort of 12 patients. Clin Genet. 2012 Jan;81(1):47-55.doi: 10.1111/j.1399-0004.2011.01638.x. Epub 2011 Feb 14. PubMed PMID: 21255007.
  3. Giugliani R, Ferrari I, Greene LJ. Heterozygous cystinuria and urinary lithiasis. Am J Med Genet. 1985 Dec;22(4):703-15. PubMed PMID: 3934971.