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Maria Stella Graziani

Deputy Director
Martina Zaninotto

Associate Editors
Ferruccio Ceriotti
Davide Giavarina
Bruna Lo Sasso
Giampaolo Merlini
Martina Montagnana
Andrea Mosca
Paola Pezzati
Rossella Tomaiuolo
Matteo Vidali

EIC Assistant
Francesco Busardò

International Advisory Board Khosrow Adeli Canada
Sergio Bernardini Italy
Marcello Ciaccio Italy
Eleftherios Diamandis Canada
Philippe Gillery France
Kjell Grankvist Sweden
Hans Jacobs The Netherlands
Eric Kilpatrick UK
Magdalena Krintus Poland
Giuseppe Lippi Italy
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Sverre Sandberg Norway
Ana-Maria Simundic Croatia
Tommaso Trenti Italy
Cas Weykamp The Netherlands
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Biomedia srl
Via L. Temolo 4, 20126 Milano

Responsible Editor
Giuseppe Agosta

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Chiara Riva
Biomedia srl
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ISSN print: 0393 – 0564
ISSN digital: 0392- 7091

BC: Articoli scritti da S. Penco

M.S. Cigoli  |  S. Penco  |  A. Mosca  | 
<p>Cystinuria is a rare inherited disorder, generally transmitted as an autosomal recessive trait. It is&nbsp;characterized by defective resorption (for deficits of transporter proteins) of cystine and dibasic amino acids at the&nbsp;level of renal proximal tubules and, to a lesser extent, of intestinal cells. The low solubility of cystine at physiologic&nbsp;urinary acidity leads to its precipitation in the form of crystals and stones, causing the urinary tract obstruction.&nbsp;The two genes responsible for cystinuria are&nbsp;<em>SLC3A1</em>&nbsp;(chromosome 2p21) and&nbsp;<em>SLC7A9</em>&nbsp;(chromosome 19q12),&nbsp;encoding for the heavy subunit rBAT and the light subunit b<sup>0,+</sup>AT of the renal b<sup>0,+</sup> transporter, respectively. Cystinuria&nbsp;can be classified in type I and non-type I on the basis of urinary excretion rate of cystine. Alternatively, cystinuria can&nbsp;be classified as type A (<em>SLC3A1</em>&nbsp;gene mutated), type B (<em>SLC7A9</em>&nbsp;gene mutated) and type AB (mutations on both&nbsp;genes). Clinical symptoms and positivity of laboratory tests are the basis for diagnosis. Detection of mutations in&nbsp;<em>SLC3A1</em>&nbsp;and&nbsp;<em>SLC7A9</em>&nbsp;genes can be used to confirm the diagnosis and to identify possible carriers within the patient&nbsp;family. Although many advances have been made in the understanding of genetic and physiologic basis of cystinuria,&nbsp;the treatment still involves prevention of stone formation by dietary measures and drug therapy coupled with surgical&nbsp;intervention for stone removal.</p>
Biochimica Clinica ; 38(1) 12-17
Rassegne - Reviews