Nephrectomy in an autosomal recessive polycystic kidney disease (ARPKD) patient with rapid kidney enlargement and increased expression of EGFR

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[Autosomal recessive polycystic kidney disease (ARPKD)].

Autosomal recessive polycystic kidney disease (ARPKD) is an important hereditary early childhood nephropathy. However, the clinical ARPKD spectrum is much more variable than is generally presumed. Presentation of ARPKD at a later age and survival into adulthood is well known. Diagnostic criteria, clinical course, differential diagnoses, genetics and molecular biology will be discussed along wit...

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Autosomal Recessive Polycystic Kidney Disease

The following fictional case is intended as a learning tool within the Pathology Competencies for Medical Education (PCME), a set of national standards for teaching pathology. These are divided into three basic competencies: Disease Mechanisms and Processes, Organ System Pathology, and Diagnostic Medicine and Therapeutic Pathology. For additional information, and a full list of learning objecti...

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Autosomal Recessive Polycystic Kidney Disease

A single gene defect leads to differing degrees of renal and hepatic involvement, with very different phenotypes and clinical outcome within even one affected family. [2] Kidneys are bilaterally enlarged and contain large numbers of cysts throughout the organ, due to the dilatation and elongation of renal collecting ducts. At birth, the interstitium and the rest of the tubules are normal but th...

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Autosomal Recessive Polycystic Kidney Disease

A 25-year-old pregnant female reported at 28 weeks of gestation with non specific abdominal pain. On evaluation, the ultra-sonogram revealed a single live fetus in breech presentation. Placenta was anterior and high and there was severe oligohydramnios. Both fetal kidneys were enlarged in size (occupying most of the abdominal cavity) and homogenously hyperechoic & studded with numerous variable...

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ژورنال

عنوان ژورنال: Nephrology Dialysis Transplantation

سال: 2008

ISSN: 0931-0509,1460-2385

DOI: 10.1093/ndt/gfn288