Primary hyperoxaluria: the pediatric nephrologist's point of view

Related Experiment Video

Updated: Sep 22, 2025

Estimation of Urinary Nanocrystals in Humans using Calcium Fluorophore Labeling and Nanoparticle Tracking Analysis
07:45

Estimation of Urinary Nanocrystals in Humans using Calcium Fluorophore Labeling and Nanoparticle Tracking Analysis

Published on: February 9, 2021

3.7K

Efrat Ben-Shalom1, Sander F Garrelfs2, Jaap W Groothoff2

  • 1Division of Pediatric Nephrology, Shaare Zedek Medical Center, Jerusalem, Israel.

Clinical Kidney Journal
|May 20, 2022
PubMed

Insights

Primary hyperoxaluria in children presents diverse symptoms, from kidney issues to systemic oxalosis. Treatment involves managing kidney function, dialysis, transplantation, and exploring new RNA interference therapies.

Area of Science:

  • Pediatric Nephrology
  • Metabolic Disorders
  • Genetics

Background:

  • Primary hyperoxaluria (PH) is a rare genetic disorder.
  • It leads to oxalate deposition in kidneys and other organs.
  • Pediatric PH can cause severe kidney damage and systemic oxalosis.

Purpose of the Study:

  • To review the clinical manifestations of pediatric primary hyperoxaluria.
  • To discuss current and emerging treatment strategies.
  • To address ethical considerations in managing this condition.

Main Methods:

  • Literature review of primary hyperoxaluria in children.
  • Analysis of clinical presentations and outcomes.
  • Evaluation of treatment modalities including dialysis and transplantation.

Main Results:

  • Clinical spectrum ranges from nephrocalcinosis to end-stage kidney failure.
  • Systemic oxalosis is a severe complication.
  • Liver or combined liver/kidney transplantation is the definitive treatment for PH type 1.

Conclusions:

  • Early diagnosis and management are crucial.
  • Novel treatments like RNA interference show promise.
  • Multidisciplinary care and ethical considerations are vital for pediatric PH patients.

Keywords:
dialysishyperoxaluriakidney transplantationliver transplantationpediatricssystemic oxalosis

More Related Videos

Use of Ultra-high Field MRI in Small Rodent Models of Polycystic Kidney Disease for In Vivo Phenotyping and Drug Monitoring07:35

Use of Ultra-high Field MRI in Small Rodent Models of Polycystic Kidney Disease for In Vivo Phenotyping and Drug Monitoring

Published on: June 23, 2015

11.6K
Isolation, Characterization, And High Throughput Extracellular Flux Analysis of Mouse Primary Renal Tubular Epithelial Cells09:40

Isolation, Characterization, And High Throughput Extracellular Flux Analysis of Mouse Primary Renal Tubular Epithelial Cells

Published on: June 20, 2018

17.9K

Related Concept Videos

Urinary Tract Calculi IV: Nutrition Therapy and Prevention01:27

Urinary Tract Calculi IV: Nutrition Therapy and Prevention

Management of renal calculi focuses on effective strategies like tailored nutrition and hydration therapy. Adjusting diet and fluid intake reduces stone formation and recurrence, making these interventions simple yet powerful in kidney stone prevention and management.Understanding Kidney StonesKidney stones form when calcium, oxalate, uric acid, and cystine concentrate and crystallize in urine. Factors contributing to their formation include genetic predisposition, certain medical conditions,...
43
Chronic Kidney Disease III: Interprofessional Care01:28

Chronic Kidney Disease III: Interprofessional Care

Chronic kidney disease (CKD) requires collaborative and comprehensive management. CKD progresses through stages and can lead to end-stage kidney disease (ESKD) if untreated. Interprofessional collaboration and patient education are crucial, enabling patients to manage their health and improve their quality of life.Diagnostic approach for chronic kidney diseaseThe diagnosis of CKD primarily focuses on the glomerular filtration rate (GFR), which assesses kidney function by measuring how well...
89
Acute Kidney Injury V: Interprofessional Care01:20

Acute Kidney Injury V: Interprofessional Care

Acute Kidney Injury (AKI) requires a collaborative healthcare approach to restore renal function and prevent complications. Essential management strategies involve monitoring fluid and electrolyte balance, adjusting medications, initiating dialysis when necessary, and providing nutritional support.Fluid and Electrolyte ManagementFluid Monitoring: Regularly monitoring body weight, central venous pressure, and urine output helps detect fluid imbalances early. Patient intake and output are...
52
Renal Regulation of Acid-Base Balance01:29

Renal Regulation of Acid-Base Balance

Metabolic reactions in the body produce nonvolatile acids, such as sulfuric acid, which generate an acid load of approximately 1 mEq of H+ per kilogram of body weight daily. Excreting H+ in the urine is essential to balance this acid load.
In the kidneys, cells within the proximal convoluted tubules (PCT) and the collecting ducts secrete hydrogen ions (H+) into the tubular fluid. Specifically, in the PCT, Na+/H+ antiporters secrete H+ while reabsorbing Na+.
However, the intercalated cells in...
751
Nephrotic Syndrome I : Introduction01:24

Nephrotic Syndrome I : Introduction

Nephrotic Syndrome is a chronic kidney disorder defined by clinical findings such as severe proteinuria, hypoalbuminemia, hyperlipidemia, and edema. These symptoms result from damage to the glomeruli, the kidney’s filtering units, increasing their permeability to proteins.Definition and Meaning:Proteinuria, defined as the loss of more than 3.5 grams of protein per day in adults, is a crucial feature of nephrotic syndrome. This condition is often accompanied by edema, the accumulation of...
41
Inborn Errors of Metabolism01:20

Inborn Errors of Metabolism

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...
254