Related Experiment Video
Updated: May 24, 2026
09:40
Isolation, Characterization, And High Throughput Extracellular Flux Analysis of Mouse Primary Renal Tubular Epithelial Cells
Published on: June 20, 2018
Primary hyperoxaluria type 1 in Tunisian children.
Tahar Gargah1, Nourchene Khelil, Gharbi Youssef
1Department of Pediatric Nephrology, Charles Nicolle Hospital, Tunis, Tunisia. kitomora@yahoo.fr
Summary
Primary hyperoxaluria type 1 in children often presents with kidney damage and stones. Pyridoxine treatment showed benefit in some cases, indicating potential for improved outcomes.
Area of Science:
- Pediatric Nephrology
- Metabolic Disorders
- Genetics
Background:
- Primary hyperoxaluria type 1 (PH1) is a rare genetic metabolic disease.
- It leads to excessive oxalate production and deposition in kidneys and other organs.
- Early diagnosis and management are crucial to prevent severe complications.
Purpose of the Study:
- To investigate the clinical, biological, and radiological characteristics of PH1 in Tunisian children.
- To evaluate the diagnostic methods and treatment outcomes in this cohort.
- To identify factors influencing the disease progression and prognosis.
Main Methods:
- Retrospective study of 44 Tunisian children diagnosed with PH1 between 1995 and 2009.
- Diagnosis confirmed by urinary oxalate excretion, infrared spectroscopy of stones, or kidney biopsies.
- Assessment of clinical presentation, renal function, nephrocalcinosis, and response to pyridoxine therapy.
Main Results:
- The male-to-female ratio was 1:2, with a median age at diagnosis of 5.75 years.
- Nephrocalcinosis was universal; 27% of patients had end-stage renal disease at diagnosis.
- Pyridoxine responsiveness (≥60% oxalate reduction) was observed in 27% of cases.
- Common manifestations included nephrocalcinosis, urolithiasis, and renal failure.
Conclusions:
- PH1 in Tunisian children typically presents with significant renal involvement.
- Pyridoxine sensitivity is associated with a better clinical outcome.
- Comprehensive management strategies are essential for improving the prognosis of PH1.
More Related Videos
07:45Estimation of Urinary Nanocrystals in Humans using Calcium Fluorophore Labeling and Nanoparticle Tracking Analysis
Published on: February 9, 2021
07:35Use 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
Related Concept Videos
01:20Inborn 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...
01:26Urinary Tract Calculi II: Pathophysiology and Clinical Manifestations
Renal calculi, commonly termed kidney stones, are crystalline solid masses that form in the kidneys but can occur at any point within the urinary system, encompassing the kidneys, ureters, bladder, and urethra.The pathophysiology of renal stones involves several key factors: supersaturation of the urine with stone-forming constituents, changes in urine pH, a decrease in urine volume, and the presence of substances that promote or inhibit stone formation.Supersaturation of Urine: This is the...
01:27Protein Import into the Peroxisomes
Cells contain membrane-bound organelles called peroxisomes that oxidize organic molecules by transferring hydrogen atoms to oxygen, producing hydrogen peroxide. Peroxisomes enzymatically convert the released hydrogen peroxide into water and oxygen.
Peroxisomal Protein Import:
Peroxisomes lack the genetic machinery required to code for their own proteins. Hence, most peroxisomal membrane, lumenal and transmembrane proteins are synthesized in the cytoplasm or ER and transported to the peroxisome...
Peroxisomal Protein Import:
Peroxisomes lack the genetic machinery required to code for their own proteins. Hence, most peroxisomal membrane, lumenal and transmembrane proteins are synthesized in the cytoplasm or ER and transported to the peroxisome...
01:27Glucose Transporters
Glucose transporters facilitate the transport of glucose across the cell membrane. In addition to glucose, some glucose transporters can also aid the movement of other hexoses such as fructose, mannose, and galactose.
Facilitated diffusion-glucose transporters (GLUTs) are encoded by the solute-linked carrier (SLC) family 2, subfamily A gene family, or SLC2A. The 14 GLUT protein members are distributed into three classes:
Facilitated diffusion-glucose transporters (GLUTs) are encoded by the solute-linked carrier (SLC) family 2, subfamily A gene family, or SLC2A. The 14 GLUT protein members are distributed into three classes:
01:28Urinary Tract Calculi I: Introduction
Renal calculi, or kidney stones, are solid deposits of minerals and salts formed inside the kidneys. In medical terminology, "calculus" refers to the stone itself, while "lithiasis" describes the process of stone formation. Depending on their location within the urinary system, these stones may be classified as either urolithiasis, when situated within the urinary tract, or nephrolithiasis, when located within the kidneys. Each term signifies the specific impact of the stone.Predisposition...
01:25Jaundice
Jaundice, or icterus, is the yellow discoloration of the skin, sclerae, and mucous membranes. It happens when plasma bilirubin levels rise above 2.5-3 mg/dL, leading to bilirubin deposition in tissue.Bilirubin is a byproduct of hemoglobin degradation. In macrophages, hemoglobin breaks down into globin and heme. Globin is converted into amino acids, while heme is turned into biliverdin by heme oxygenase, which is then reduced to unconjugated bilirubin by biliverdin reductase.Unconjugated...