Alkaptonuria Patient with Non - Progressive Chronic Kidney Disease

Yıl 2013, , 28 - 31, 01.12.2013

Aysun Yakut Mehmet Dikeç Murat Tuğcu Murat Gücün Mustafa Canbakan Gülizar Şahin Gülbüz Sezgin Sheyla Apaydın

https://doi.org/10.1006/geno.1997.4805

Öz

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.

Anahtar Kelimeler

alkaptonuria, non-progressif renal failure, ochronosis, autosomal recessive

Non - Progresif Kronik Böbrek Yetmezliği olan Alkaptonürili Hasta

Öz

Alkaptonüri, otozomal resesif geçişli, 1902 yılında Garrod tarafından tanımlanmış, ilk doğumsal metabolik hastalıktır 1 . Oldukça nadirdir, ancak Slovakya ve Dominik Cumhuriyeti gibi ülkelerde daha sık görülür. 3q kromozomunda kodlanmış, tirozin metabolizmasında rol alan Homogentisik Asit Oksidaz HGO geninde mutasyon 1996 yılında tanımlanmış ve şimdiye kadar 40'ın üzerinde mutasyon tespit edilmiştir 2 . HGO enzim yetersizliğine bağlı olarak idrarla atılamayan Homogentisik Asit HGA ve metabolitlerinin kollajenden zengin bağ dokusunda birikmesi ile hastalık belirti verir 3 . Bu oksidasyon ve pigment oluşumu geri dönüşümsüzdür 4 . Bu özelliklere rağmen, beklenen yaşam süresi sağlıklı bireyler kadardır. Tüm vücutta, yaygın, bağ dokusunda koyu renkli pigment birikmesiyle “okronozis” oluşur. Olgu sunumunda; 2002 yılından beri takip ettiğimiz alkaptonürisi olan kronik böbrek yetmezliği KBY , ileri derece demansı, idrar inkontinansı, yaygın kemik ağrıları ve osteoporozu olan 47 yaşında erkek hasta sunulacaktır.

Anahtar Kelimeler

alkaptonüri, non-progresif böbrek yetmezliği, okronozis, otozomal resesif

Kaynakça

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