Adult polycystic kidney disease
| Autor: | Smolčić, Irma |
|---|---|
| Přispěvatelé: | Markić, Dean, Oguić, Romano, Španjol, Josip, Orlić, Lidija |
| Jazyk: | chorvatština |
| Rok vydání: | 2018 |
| Předmět: | |
| Popis: | Policistična bolest bubrega je nasljedna bolest bubrega za koju su karakteristične ciste smještene u kori i u meduli bubrega. Razlikujemo adultni oblik bolesti nasljeđen autosomno dominantno i juvenilni oblik nasljeđen autosomno recesivno. Glavnu ulogu u patogenezi bolesti imaju mutacije gena PKD1 i PKD2, s time da je u 85% slučajeva zahvaćen PKD1 gen koji pokazuje i težu kliničku sliku. Kod policistične bolesti se simptomi mogu javiti intrauterino ili kasnije u životu oko 30 godine jer ciste mogu i polako rasti. Prvi simptomi bolesti su mikro ili makrohematurija. Hematurija može biti izazvana traumom, intenzivnijom tjelovježbom ili infekcijom donjeg urinarnog sustava. Pacijenti se žale na bol koja može biti akutna i kronična. Akutna bol se povezuje sa rupturom ciste, nefrolitijazom ili infekcijom ciste ,dok kronična bol se javlja zbog cjelokupnog povećanja volumena bubrega i jetre u kojoj su često prisutne ekstrarenalne manifestacije bolesti. Najraniji znak bolesti je hipertenzija kod dotad asimptomatskih bolesnika. Glavna metoda za dijagnozu policistične bolesti je ultrazvuk pomoću kojeg se uočavaju povećani bubrezi ispunjeni sa multiplim cistama. Liječenje policistične bolesti podrazumijeva liječenje hipertenzije uz upotrebu ACE inhibitora ili blokatora angiotenzinskih receptora. Ako su prisutne komplikacije poput krvarenja, gnojenja, jakih bolova i opstrukcije poduzimaju se postupci poput punkcije, resekcije i elektrokoagulacije cisti, a u krajnjem slučaju i nefrektomija. Bolest ima progresivan tok i najčešće završava kroničnom bubrežnom insuficijencijom i hemodijalizom. Polycystic kidney disease is a hereditary kidney disease characterized by a large number of cysts located in the bark and in the medulla of kidney. We can distinguish autosomal dominant form of the disease , and juvenile form inherited autosomically recessively. The main role in pathogenesis of the disease are mutations of PKD1 and PKD2 genes, with 85% of cases being affected by PKD1 genes that show a heavier clinical picture. Symptoms of the disease may occur intrauterine or later in life when the patient is about 30 years old because the cysts can grow slowly. The first symptoms of the disease that are a negative prognostic sign are micro or macrohematuria. Hematuria may be caused by trauma, intense exercise or lower urinary tract infection. Patients complain of pain that can be acute and chronic. Acute pain is associated with rupture cysts, nephrolithiasis or cyst infection, while chronic pain occurs due to the overall increase in kidney and liver volume, where extrarenal manifestation of the disease is often present. The earliest sign of the disease is hypertension in asymptomatic patients. The main method for diagnosing polycystic disease is ultrasound, which is used to detect multiple cysts in kidney. Treating polycystic disease involves treating hypertension with the use of ACE inhibitors or angiotensin blocking antagonists. If complications such as bleeding, wheezing, severe pain and obstruction are present, procedures such as puncture, resection and electrocoagulation are recommended and in severe cases nefrectomy. Disease has a progressive course and usually ends with chronic congestive kidney disorder and hemodialysis. |
| Databáze: | OpenAIRE |
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