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NR 3/2004
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Zespół Alporta –
opis przypadku
Alport’s syndrome – case
report
Mirosław Słowik1, Grażyna
Popiela1, Krzysztof Kazimierczak2,
Łukasz Szelepin1, Marek Szaliński1
1Z Katedry i Kliniki Okulistyki Akademii Medycznej we
Wrocławiu
Kierownik: prof. dr hab. n. med. Maria Hanna Niżankowska
2Z Katedry i Kliniki Nefrologii i Medycyny
Transplantacyjnej Akademii Medycznej we Wrocławiu
Kierownik: prof. dr hab. n. med. Marian Klinger |
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| Summary: |
The history and clinical
findings of 30-year man with Alport's syndrome are
presented. The main features of Alport's syndrome are
hereditary chronic nephritis leading to renal failure
resulting in death and sensory-neural deafness. Ocular
features include anterior lenticonus, macular and
peripheral flecks resembling fundus albipunctatus. The
etiology of this syndrome is unknown. It has been
suggested that there may be a metabolic defect in the
biosynthesis of collagen with changes in the glomerular
basement membrane, cochlea and capsule of the lens. The
retinal flecks may also be related to the different
underlying glial cells, Müllers cells producing thick
basement membrane. It is concluded that diagnosis of
fundus albipunctatus should not be made in the absence
of full renal investigation and audiometry. |
| Słowa kluczowe: |
zespół Alporta, plamki
siatkówki. |
| Key words: |
Alport's syndrome, retinal
flecks. |
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