2013, Cilt 5, Sayı 3, Sayfa(lar) 028-031
Alkaptonuria Patient with Non - Progressive Chronic Kidney Disease: A Case Report
Dr. Aysun Yakut1, Dr. Mehmet Dikeç2, Dr. Murat Tuğcu2, Dr. Murat Gücün2, Dr. Mustafa Canbakan2, Dr. Gülizar Şahin2, Dr. Gülbüz Sezgin3, Dr. Sheyla Apaydın2
1Haydarpaşa Numunesi EAH İç Hastalıkları Kliniği
2Haydarpaşa Numune E.A.H. , İç Hastalıkları ve Nefroloji Kliniği
3Maltepe Üniversitesi Tıp Fakültesi, İç Hastalıkları A.B.D.
Keywords: alkaptonuria, non-progressif renal failure, ochronosis, autosomal recessive

Alkaptonuria, described by Garrotin 1902, is one of the first congenital disorder. It has an autosomal recessive inheritance pattern. It is a very rare disease,but is seen more often in Slovekia and Dominican Rebuplic.The human gene for the disease is coded on chromozome 3q. Mutation in the homogentisic acid oxidase which has a role in tyrosine metabolism has been described in 1996 and up to now, 40 mutations have been described in this gene. Homogentisic acid and oxydase (HGO)enzyme deficiency causes the accumulation of homogentisic acid and its metabolites in the blood and precipitations in all the connective tisssues of the body. Oxidation and pigment formation process is irreversible. Though life expectancy is similar with healthy individuals. The acumulation and diffuse staining with this brownish black pigment of the all connective tissue of the body and skin, is called ochronosis.

Here in,we present a 49y/o male patient who has been under own care since 2012, with chronosis and its clinical course and complications as chronic renal failure, demantia , urinary incontinence and osteoporosis.