**Cystinuria: A Review of Inheritance Patterns, Diagnosis, Medical Treatment and Prevention of Stones**

John A. Sayer and Fay Hill

[83] Saravakos P, Kokkinou V, Giannatos E. Cystinuria: Current diagnosis and management. Urology. 2014 Apr;**83**(4):693‐699. DOI: 10.1016/j.urology.2013.10.013. Review

[84] Asplin DM, Asplin JR. The Interaction of thiol drugs and urine pH in the treatment of cystinuria. Journal of Urology. 2013 Jun;**189**(6):2147‐2151. DOI: 10.1016/j.juro.2012.12.031

[85] Biyani CS, Cartledge JJ. Cystinuria‐diagnosis and management. EAU‐EBU Update Series.

[86] DeBerardinis RJ, Coughlin 2nd CR, Kaplan P. Penicillamine therapy for pediatric cystinuria: Experience from a cohort of American children. Journal of Urology. 2008

[87] Nihon Asanuma H, Nakai H, Takeda M, Shishido S, Kawamura T, Nagakura K, Yamafuji M. Clinical study on cystinuria in children‐‐the stone management and the prevention of calculi recurrence. [Article in Japanese] Hinyokika Gakkai Zasshi. 1998 Sep;**89**(9):758‐765

[88] Pak CY, Fuller C, Sakhaee K, Zerwekh JE, Adams BV. Management of cystine nephrolithia‐ sis with alpha‐mercaptopropionylglycine. Journal of Urology. 1986 Nov;**136**(5):1003‐1008

[89] Tasic V, Lozanovski VJ, Ristoska‐Bojkovska N, Sahpazova E, Gucev Z. Nephrotic syndrome occurring during tiopronin treatment for cystinuria. European Journal of

[90] Zheng Z, Xue Y, Jia J, Wei L, Shang W, Lin S. Tiopronin‐induced membra‐ nous nephropathy: A case report. Renal Failure. 2014 Oct;**36**(9):1455‐1460. DOI:

[91] Berio A, Piazzi A. Prophylaxia of cystine calculosis by alpha‐mercaptopropionyl‐ glycine administered continuously or every other day. Boll Soc Ital Biol Sper. 2001

[92] Goldfarb DS, Coe FL, Asplin JR. Urinary cystine excretion and capacity in patients with

[93] Chow GK, Streem SB. Medical treatment of cystinuria: Results of contemporary clinical

[94] Printza N, Koukourgianni F, Papathanasiou A, Augoustides‐Savvopoulou P, Papachristou F. Efficacy of captopril therapy in cystinuria lithiasis. A case report. Hippokratia. 2007

[95] Conde Sánchez JM, Reina Ruiz C, Amaya Gutiérrez J, Camacho Martínez E, Vega Toro P, García Pérez M. Cystine calculi. Prevention with captopril. Clinical case. [Article in

[96] Seyedzadeh A, Momtaz HE, Moradi MR, Moradi A. Pediatric cystine calculi in west of

Pediatrics. 2011 Feb;**170**(2):247‐249. DOI: 10.1007/s00431‐010‐1315‐3

cystinuria. Kidney International. 2006 Mar;**69**(6):1041‐1047

practice. Journal of Urology. 1996 Nov;**156**(5):1576‐1578

Spanish] Actas Urológicas Españolas. 2000 Feb;**24**(2):190‐196

Iran: A study of 22 cases. Urology Journal. 2006 Summer;**3**(3):134‐137

Dec;**180**(6):2620‐2623. DOI: 10.1016/j.juro.2008.08.057

68 Updates and Advances in Nephrolithiasis - Pathophysiology, Genetics, and Treatment Modalities

2006;**4**:175‐183

10.3109/0886022X.2014.926754

Apr–Jun;**77**(4‐6):35‐41

Apr;**11**(2):83‐85

Additional information is available at the end of the chapter

http://dx.doi.org/10.5772/intechopen.69984

#### **Abstract**

Cystinuria is a rare inherited renal stone disease. Mutations in two genes *SLC3A1* and *SLC7A9* underlie this condition, encoding proteins that facilitate dibasic amino acid exchange which are expressed in the gut and the proximal tubule of the kidney. Genetic studies now allow precise genotyping of patients who may have both autosomal dominant and autosomal recessive patterns of disease. The disorder is characterised by the urinary loss of cystine, lysine, ornithine, and arginine, and the insolubility of cystine gives rise to crystalluria and cysteine-containing renal stones. Although an inherited condition, it may present at any age. Clinical management combines lifestyle advice and preventative medical therapy. However, many patients require surgical interventions to remove problematic stones from the urinary tract. Preventative therapies include increased fluid intake, alkalinization of the urine, and the use of cystine-binding drugs, including penicillamine and tiopronin, which form soluble heterodimers with cystine.

**Keywords:** cystine, calculi, *SLC7A9*, *SLC3A1*, genetics, prevention, urine, crystal
