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Related Concept Videos

Nephrons01:10

Nephrons

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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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Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...
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Overview of Protein Metabolism01:21

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Proteins are broken down into amino acids during digestion. Unlike fats and carbohydrates, which are stored for later use, proteins are not. Instead, amino acids are either used to produce ATP through oxidation or contribute to the creation of new proteins for the growth and repair of the body. Any surplus amino acids from the diet are converted into glucose or triglycerides rather than excreted.
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Renal Corpuscle01:20

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The glomerulus and Bowman's capsule are two essential components of the nephron, which is the functional unit of the kidney. These microscopic structures play a critical role in the process of blood filtration to produce urine.
Glomerulus: Structure and Function
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Renal Tubule and Collecting Duct01:24

Renal Tubule and Collecting Duct

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The renal tubule is divided into three parts: the proximal convoluted tubule (PCT), the Loop of Henle (LOH), and the distal convoluted tubule (DCT).
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Lysosomes are the site for the degradation of macromolecules and biological polymers released during membrane trafficking events such as secretory, endocytic, autophagic, and phagocytic pathways. The membrane-enclosed area of the lysosome, called the lumen, contains hydrolytic enzymes active in an acidic environment. These acid hydrolases are functional at a pH between 4.5 and 5 and are involved in cellular processes such as cell signaling, energy metabolism, restoration of the plasma membrane,...
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Related Experiment Video

Updated: Jul 4, 2025

Induction of Nephrotic Syndrome in Mice by Retrobulbar Injection of Doxorubicin and Prevention of Volume Retention by Sustained Release Aprotinin
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Nephrotic Syndrome in a Child With NPHS2 Mutation.

Ross Tollaksen1, Randall D Craver2, Ihor V Yosypiv1

  • 1Departments of Pediatrics, Section of Pediatric Nephrology, Tulane University Health Sciences Center, New Orleans, LA, USA.

Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society
|January 31, 2024
PubMed
Summary
This summary is machine-generated.

Early genetic testing for steroid-resistant nephrotic syndrome (SRNS) in children is crucial. Identifying NPHS2 gene variants avoids unnecessary immunosuppression and guides appropriate treatment for this kidney disease.

Keywords:
NPHS2 gene variantchildrengene mutationkidney biopsynephrotic syndromesteroid resistant nephrotic syndrome

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Area of Science:

  • Pediatric Nephrology
  • Medical Genetics

Background:

  • Steroid-resistant nephrotic syndrome (SRNS) affects 30% of pediatric nephrotic syndrome (NS) cases, often progressing to end-stage kidney disease (ESKD).
  • Approximately 30% of pediatric SRNS cases are linked to mutations in podocyte-associated genes, highlighting the role of genetics.

Observation:

  • A 2-year-old boy presented with NS unresponsive to steroids, exhibiting mesangial proliferative glomerulopathy and basement membrane dysmorphism on biopsy.
  • Genetic analysis revealed a homozygous pathogenic NPHS2 variant (c.413G>A, p.Arg138Gln), a known founder mutation in European populations.

Findings:

  • The patient was diagnosed with autosomal-recessive nonsyndromic SRNS due to the NPHS2 variant.
  • Treatment was adjusted by discontinuing immunosuppressants, increasing lisinopril, and initiating albumin/furosemide infusions for edema management.

Implications:

  • Early genetic testing in pediatric SRNS prevents prolonged, potentially harmful immunosuppressive therapy.
  • Genetic diagnosis facilitates timely family counseling and earlier planning for kidney transplantation, improving patient outcomes.