ABSITE CORNER. Polycystic kidney disease
نویسندگان
چکیده
GENERAL INFORMATION Key points: (a) Polycystic kidney disease (PKD) is one of the most common genetic disorders; (b) There are two main types of PKD – autosomal dominant (most common) and autosomal recessive; (c) Diagnosis of PKD relies on a combination of clinical history, family history, imaging studies (computed tomography, ultrasound) and clinical findings (hematuria, hypertension, proteinuria); (d) Extrarenal manifestations of PKD include hepatic cysts, pancreatic and intestinal cysts, colonic diverticula, inguinal and abdominal wall hernias, valvular heart disorders, and cerebral aneurysms; (e) Treatment is centered on ameliorating symptoms and providing supportive care – therapy consists of adequate analgesia for pain symptoms, antibiotics for urinary tract infections, antihypertensive medications, renal supportive therapy; (f) Surgical indications include surgical decompression of large cysts and renal transplantation for endstage renal failure.
منابع مشابه
Fasting in a 16-year-old girl at-risk of autosomal dominant polycystic kidney disease
Autosomal dominant polycystic kidney disease (ADPKD) is the most common form of inherited kidney disease that results in renal failure. PKD currently has no causative therapy. However, some treatment options are available, ranging from symptomatic therapy to delaying the onset of end-stage renal failure. Early diagnosis of adult polycystic kidney disease is vital in order to prevent its complic...
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Background Autosomal recessive polycystic kidney disease (ARPKD; OMIM number 263200) is a severe early onset hereditary form of polycystic kidney and liver disease. Case Report In the current study, we present a consanguineous couple with a history of an affected son with polycystic kidney disease (PKD), hepatic failure and epileptic seizures who died at the age of 8 months. Both parents were h...
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Ultrasonography is an accurate and accessible method for detecting polycystic kidney disease (PKD), an inherited autosomal dominant disease, and other urinary tract diseases. The present work is a preliminary study of PKD and urinary tract abnormalities using ultrasonography in Persian and other long hair cats in Iran. This study was conducted on 83 cats including 68 Persian cats and 15 Persian...
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Background: Autosomal-dominant polycystic kidney disease (ADPKD) is the most prevalent inherited genetic disease of cats, predominantly affecting Persians and Persian-related cats. Aims: The purpose of this study was to determine prevalence of polycystic kidney disease (PKD) in Persian cats in Iran, and also to asses...
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Background Autosomal recessive polycystic kidney disease (ARPKD) is caused by mutations in the PKHD1gene. In the present study, we describe a severe case of ARPKD carrying a point mutation and a novel four-exon deletion of PKHD1 gene. Materials and Methods The PKHD1, PKD1 and PKD2 ...
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