Renal Pathological Findings in Action Myoclonus: Renal Failure Syndrome.

08:00 EDT 12th September 2019 | BioPortfolio

Summary of "Renal Pathological Findings in Action Myoclonus: Renal Failure Syndrome."

Action myoclonus - renal failure is a rare syndrome associated with a progressive myoclonic epilepsy and renal impairment that may lead to end-stage renal failure. It is an autosomal recessive genetic disease related to a loss-of-function mutation in SCARB2, which encodes for lysosomal integral membrane protein type 2. Renal involvement is poorly described, and we report here the first electron microscopy renal analysis after having performed a kidney biopsy in a 31-year-old Gambian patient.


Journal Details

This article was published in the following journal.

Name: Nephron
ISSN: 2235-3186
Pages: 1-4


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Medical and Biotech [MESH] Definitions

Condition where a primary dysfunction of either heart or kidney results in failure of the other organ (e.g., HEART FAILURE with worsening RENAL INSUFFICIENCY).

A syndrome that is associated with microvascular diseases of the KIDNEY, such as RENAL CORTICAL NECROSIS. It is characterized by hemolytic anemia (ANEMIA, HEMOLYTIC); THROMBOCYTOPENIA; and ACUTE RENAL FAILURE.

Functional KIDNEY FAILURE in patients with liver disease, usually LIVER CIRRHOSIS or portal hypertension (HYPERTENSION, PORTAL), and in the absence of intrinsic renal disease or kidney abnormality. It is characterized by intense renal vasculature constriction, reduced renal blood flow, OLIGURIA, and sodium retention.

Conditions in which the KIDNEYS perform below the normal level in the ability to remove wastes, concentrate URINE, and maintain ELECTROLYTE BALANCE; BLOOD PRESSURE; and CALCIUM metabolism. Renal insufficiency can be classified by the degree of kidney damage (as measured by the level of PROTEINURIA) and reduction in GLOMERULAR FILTRATION RATE. The most severe form is KIDNEY FAILURE. Renal function may deteriorate slowly (RENAL INSUFFICIENCY, CHRONIC) or precipitously (RENAL INSUFFICIENCY, ACUTE).

The amount of PLASMA that perfuses the KIDNEYS per unit time, approximately 10% greater than effective renal plasma flow (RENAL PLASMA FLOW, EFFECTIVE). It should be differentiated from the RENAL BLOOD FLOW; (RBF), which refers to the total volume of BLOOD flowing through the renal vasculature, while the renal plasma flow refers to the rate of plasma flow (RPF).

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