EVREN GUMUS, Uğur Deveci, MERYEM KARACA, Milan Jirsa

Moleküler düzeyde tanısı konulmuş olan ilk Türk Rotor sendromlu aile

Rotor sendromu, tedaviye gereksinim göstermeyen, kendi kendinisınırlayabilen, sarılık ile seyreden, herhangi bir morbiditeye nedenolmayan, beklenen yaşam süresini etkilemeyen, hiperbilirubinemiolarak tanımlanmaktadır. Dizinde değerlendirilebildiği kadarı ile bu güne kadar moleküler temeli gösterilmiş Rotor sendromu hasta sayısı20’den azdır. Bu olgu takdiminde moleküler temeli gösterilmiş Rotorsendromu olan iki kardeşi sunmayı amaçladık. Dizinde değerlendi rebildiğimiz kadarı ile bu bireyler Rotor sendromu tanıları moleküleryöntem ile gösterilen ilk Türk hastalardır

The first Turkish family with Rotor syndromediagnosed at the molecular level

Rotor syndrome is defined as a self-limiting hyperbilirubinemia characterized by jaundice that does not need treatment, cause any morbidity or affect life expectancy. As far as the literature is evaluated, the number of patients with Rotor syndrome diagnosed at the molecular level is less than 20 until today. In this case presentation, we aimed to present two siblings with Rotor syndrome who were diagnosed at the molecular level. To the nest of our knowledge, these patients are the first Turkish patients with Rotor syndrome diagnosed at the molecular level.

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