{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,4]],"date-time":"2026-05-04T04:39:47Z","timestamp":1777869587953,"version":"3.51.4"},"reference-count":39,"publisher":"Georg Thieme Verlag KG","issue":"04","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Tierarztl Prax Ausg K"],"published-print":{"date-parts":[[2017,7]]},"abstract":"<jats:title>Zusammenfassung<\/jats:title><jats:p>Cystinurie wird durch einen Defekt bei der renalen R\u00fcckresorption der Aminos\u00e4uren Cystin, Ornithin, Lysin und Arginin (COLA) im proximalen Nierentubulus verursacht. Die geringe L\u00f6slichkeit von Cystin im leicht sauren Milieu f\u00fchrt zur Bildung von Kristallen und Steinen im Urin. In der letzten Zeit gab es Fortschritte hinsichtlich Diagnostik und Verst\u00e4ndnis der Cystinurie bei unseren Haustieren. Bei Katzen sind beide Geschlechter gleicherma\u00dfen von der Erkrankung betroffen, unabh\u00e4ngig vom Kastrationsstatus. Trotz der relativen Seltenheit wurden bislang mehr Genmutationen bei Katzen als bei Hunden entdeckt. In dieser Fallstudie wurde ein Wurf Siammischlingskatzen in Deutschland klinisch auf Cystinurie untersucht und auf die bei Katzen bekannten Cystinurie-verursachenden Mutationen getestet. Ein adulter, kastrierter Kater wies Cystinkristalle und eine harnsteininduzierte Harnwegsobstruktion auf, die eine perineale Urethrostomie, Zystotomie und medi zinische Behandlung erforderlich machten. Dieser Kater und ein m\u00e4nnlich-kastriertes Geschwistertier ohne klinische Anzeichen einer Harnwegserkrankung wurden im Nitroprussidtest positiv auf Cystin getestet, hatten erh\u00f6hte COLA-Werte und waren homozygot f\u00fcr die Punktmutation p.Val294Glu im SLC7A9-Gen, das die b0,+AT-Untereinheit f\u00fcr den b0,+-COLA-Transporter in der Niere kodiert. Ein weiteres m\u00e4nnliches Geschwistertier zeigte keine Cystinurie und wurde negativ auf die Mutation getestet. Die gleiche SLC7A9-Mutation lie\u00df sich bereits bei jeweils einer Maine-Coon-, Sphinx- und Mittellanghaarkatze in Nordamerika nachweisen, was auf einen gemeinsamen Vorfahren und eine weitere Verbreitung schlie\u00dfen l\u00e4sst. Das Screening auf diese Mutation stellt eine einfache und zuverl\u00e4ssige Methode zur Untersuchung von Katzen auf Cystinurie dar und erm\u00f6glicht eine gezielte Behandlung betroffener Tiere.<\/jats:p>","DOI":"10.15654\/tpk-160975","type":"journal-article","created":{"date-parts":[[2017,6,6]],"date-time":"2017-06-06T11:48:36Z","timestamp":1496749716000},"page":"265-272","source":"Crossref","is-referenced-by-count":3,"title":["Cystinurie aufgrund einer SLC7A9-Missense-Mutation bei Siammischlingskatzen eines Wurfs in Deutschland"],"prefix":"10.15654","volume":"45","author":[{"given":"Stephanie","family":"Hilton","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Keijiro","family":"Mizukami","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Urs","family":"Giger","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"194","published-online":{"date-parts":[[2017,10,12]]},"reference":[{"key":"10.15654\/TPK-160975-1","doi-asserted-by":"publisher","DOI":"10.1016\/j.juro.2012.12.031"},{"key":"10.15654\/TPK-160975-2","doi-asserted-by":"publisher","DOI":"10.1111\/jvim.12176"},{"key":"10.15654\/TPK-160975-3","doi-asserted-by":"crossref","first-page":"1159","DOI":"10.2460\/javma.1978.173.09.1159","volume":"173","author":"Bush","year":"1978","journal-title":"J Am Vet Med Assoc"},{"issue":"1","key":"10.15654\/TPK-160975-4","doi-asserted-by":"crossref","first-page":"102","DOI":"10.2460\/javma.1991.198.01.102","volume":"198","author":"DiBartola","year":"1991","journal-title":"J Am Vet Med Assoc"},{"key":"10.15654\/TPK-160975-5","doi-asserted-by":"publisher","DOI":"10.1007\/s002400100201"},{"key":"10.15654\/TPK-160975-6","unstructured":"Garrod\u00a0A E Inborn errors of metabolism. 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