Cystynoza
 | Ten artykuł od 2019-03 wymaga dodania wiarygodnych źródeł medycznych dla zapewnienia weryfikowalności. |
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| cystinosis | ||
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| ICD-10 | E72.0 | |
Kryształki cystyny w rogówce 4,5-letniego pacjenta z cystynozą
Cystynoza (ang. cystinosis) – rzadka, uwarunkowana genetycznie choroba metaboliczna zaliczana do lizosomalnych chorób spichrzeniowych, w której przebiegu w lizosomach gromadzi się aminokwas cystyna. Dziedziczenie choroby jest autosomalne recesywne. Cystynoza związana jest z mutacjami genu kodującego białko enzymu cystynozyny. Częstość schorzenia szacuje się na 1:100 000-1:200 000 urodzeń.
Objawy i przebieg
Wyróżnia się trzy typy choroby:
- niemowlęcy nefropatyczny (OMIM#219800)
- dziecięcy lub młodzieńczy nefropatyczny (OMIM#219900)
- nienefropatyczny dorosłych (OMIM#219750).
Cechy zespołu to:
- prawidłowa masa i długość urodzeniowa
- niedobór wzrostu w pierwszym roku życia
- niechęć do ssania w wieku niemowlęcym
- wydatne czoło
- nieprawidłowości oczne:
- światłowstręt
- retinopatia
- obniżona ostrość wzroku
- kryształki w rogówce
- różaniec krzywiczy
- hepatomegalia
- splenomegalia
- niewydolność trzustki
- zespół Fanconiego
- niewydolność nerek
- kamica nerkowa (moczanowa i szczawianowa)
- opóźniony wiek kostny
- kolana koślawe
- jasne włosy i skóra
- męczliwość mięśni
- miopatia
- trudności w połykaniu
- prawidłowa inteligencja
- atrofia mózgu
- nawracające epizody kwasicy i odwodnień
- poliuria i polidypsja
Nieprawidłowości biochemiczne
- białkomocz
- glukozuria przy normoglikemii
- hiponatremia
- hipokaliemia
- niedobór karnityny
- hipofosfatemia
- krwinkomocz
- aminoacyduria
Linki zewnętrzne
- CYSTINOSIS, NEPHROPATHIC; CTNS w bazie Online Mendelian Inheritance in Man (ang.)
- CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE w bazie Online Mendelian Inheritance in Man (ang.)
- CYSTINOSIS, ADULT NONNEPHROPATHIC w bazie Online Mendelian Inheritance in Man (ang.)
Przeczytaj ostrzeżenie dotyczące informacji medycznych i pokrewnych zamieszczonych w Wikipedii.
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The patient was a 4 1/2-year-old male who looked about 2 1/2 years old at his first visit. He was admitted to the hospital because of poor growth and polydipsia. The patient was admitted to the hospital in uremia and coma. An examination of the cornea showed the surface and the immediate subepithelial region to be studded with golden-brown, fine scintillating particles, uniformly distributed throughout the entire cornea, but possibly sparing the most peripheral zone ([1]). The stroma appeared to be clear, but the posterior surface of the cornea showed the same type of particles in the lower nasal quadrant, although sparser than was the case on the surface. There were apparently also some crystals in the conjunctiva. The tentative diagnosis was cystinosis or Fanconi's syndrome, but unlike the other cases reported, the crystals appeared to be at the anterior and posterior surfaces and not in the stroma. The patient was seen again at age 8 years old, when he was back in the hospital. The cornea still contained crystals ([2]). The only noteworthy event in the recent history was a nosebleed of 20 hours duration. His non-protein nitrogen was 140 and he appeared very pale, but he was lively and alert. He had a persistent anemia and potassium depletion. Presumably both the anemia and the hemorrhagic diathesis were attributed to uremia. The patient died in the hospital. Noteworthy was the fact that his three siblings all showed clear corneas without crystals. However, the youngest was age three months and when she was examined again at age two years, she had abundant crystals and nephropathic cystinosis.
The patient was a 4 1/2-year-old male who looked about 2 1/2 years old at his first visit. He was admitted to the hospital because of poor growth and polydipsia. The patient was admitted to the hospital in uremia and coma. An examination of the cornea showed the surface and the immediate subepithelial region to be studded with golden-brown, fine scintillating particles, uniformly distributed throughout the entire cornea, but possibly sparing the most peripheral zone ([1]). The stroma appeared to be clear, but the posterior surface of the cornea showed the same type of particles in the lower nasal quadrant, although sparser than was the case on the surface. There were apparently also some crystals in the conjunctiva. The tentative diagnosis was cystinosis or Fanconi's syndrome, but unlike the other cases reported, the crystals appeared to be at the anterior and posterior surfaces and not in the stroma. The patient was seen again at age 8 years old, when he was back in the hospital. The cornea still contained crystals ([2]). The only noteworthy event in the recent history was a nosebleed of 20 hours duration. His non-protein nitrogen was 140 and he appeared very pale, but he was lively and alert. He had a persistent anemia and potassium depletion. Presumably both the anemia and the hemorrhagic diathesis were attributed to uremia. The patient died in the hospital. Noteworthy was the fact that his three siblings all showed clear corneas without crystals. However, the youngest was age three months and when she was examined again at age two years, she had abundant crystals and nephropathic cystinosis.