نتایج جستجو برای: arpkd
تعداد نتایج: 183 فیلتر نتایج به سال:
A mouse model for cystic biliary dysgenesis in autosomal recessive polycystic kidney disease (ARPKD)
Abstract Background and Aims Renal cystic disease (RCD) includes a spectrum of disorders with heterogenous clinical presentation. Among RCD are autosomal dominant polycystic kidney (ADPKD), recessive (ARPKD), ciliopathies, HNF1B-nephropathy, congenital anomalies the kidneys urinary tract (CAKUT). Diagnosis is based on criteria, yet, given extreme genetic heterogeneity phenotypic overlap among d...
Renal tubular cysts arise in several inherited human disorders which include autosomal dominant polycystic kidney disease (ADPKD), as well as rarer disorders such as autosomal recessive polycystic kidney disease (ARPKD) nephronophthisis and medullary cystic kidney. Despite their genetic, clinical and histopathological heterogeneity, all these diseases involve a dilation of tubules leading to cy...
We report a case of an unusual prenatal presentation of polycystic kidneys associated with multiple skeletal limb defects, including polydactyly, syndactyly, bilateral agenesis of the tibia, and club foot. The ultrasonographic picture was consistent with a diagnosis of polycystic kidney disease, either the adult onset autosomal dominant type (ADPKD) or the early onset autosomal recessive form (...
Potter syndrome (PS) is a term used to describe a typical physical appearance, which is the result of dramatically decreased amniotic fluid volume secondary to renal diseases such as bilateral renal agenesis (BRA). Other causes are abstraction of the urinary tract, autosomal recessive polycystic kidney disease (ARPKD), autosomal dominant polycystic kidney disease (ADPKD) and renal hypoplasia. I...
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