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The kidneys are intricate organs with millions of working units known as nephrons. Each nephron features two major structures: the renal corpuscle, which facilitates blood plasma filtration, and the renal tubule, which handles the glomerular filtrate. Blood supply is directly linked to the nephrons. The renal corpuscle consists of the glomerulus, a capillary network, and the Bowman's capsule, a double-walled epithelial structure that encases the glomerulus. The filtering of blood plasma...
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IntroductionNephrotic syndrome is a kidney disorder marked by excessive protein loss in the urine, leading to various systemic complications. This condition often results from damage to the glomeruli—the kidney's filtering units—causing proteinuria, low blood protein levels, and fluid retention. Understanding the assessment, diagnosis, and management of nephrotic syndrome is essential for effective treatment and prevention of further kidney damage.AssessmentPatient History: Document...
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Chronic Kidney Disease (CKD) progressively impairs multiple body systems due to the accumulation of uremic toxins, which disrupt cellular functions across various organs.Neurologic symptomsNeurologic symptoms often arise early in CKD, as uremic toxin buildup drives changes in cognitive and motor functions. Patients frequently experience fatigue, headache, confusion, difficulty concentrating, and, in severe cases, seizures. Peripheral neuropathy commonly manifests as burning sensations in the...
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Related Experiment Video

Updated: Aug 26, 2025

Implementing Patch Clamp and Live Fluorescence Microscopy to Monitor Functional Properties of Freshly Isolated PKD Epithelium
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NEK8-Associated Nephropathies: Do Autosomal Dominant Forms Exist?

Cybel Mehawej1, Eliane Chouery1, Ramy Ghabril2

  • 1Department of Human Genetics, Gilbert and Rose-Marie Chagoury School of Medicine, Lebanese American University, Byblos, Lebanon.

Nephron
|October 10, 2022
PubMed
Summary

A new de novo variant in the NEK8 gene was identified in a child with infantile nephronophthisis (NPHP). This finding suggests potential autosomal dominant forms of NPHP linked to NEK8 mutations.

Area of Science:

  • Genetics
  • Pediatric Nephrology
  • Molecular Biology

Background:

  • Nephronophthisis (NPHP) is a leading genetic cause of childhood renal failure, often linked to primary cilia protein genes.
Keywords:
Autosomal dominantGenetic variantNEK8Nephronophthisis

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  • Despite advances, a majority of NPHP patients remain molecularly undiagnosed.