Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Concept Videos

Nephrons01:10

Nephrons

2.2K
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...
2.2K
Renal Tubule and Collecting Duct01:24

Renal Tubule and Collecting Duct

789
The renal tubule is divided into three parts: the proximal convoluted tubule (PCT), the Loop of Henle (LOH), and the distal convoluted tubule (DCT).
Proximal Convoluted Tubule (PCT):
The PCT is the initial segment of the renal tubule, extending from the Bowman's capsule that encloses the glomerulus. Its convoluted structure and microvilli-lined cells increase the surface area for reabsorption. The PCT reabsorbs glucose, amino acids, sodium, and water from the filtrate, ensuring essential...
789
Overview of Protein Metabolism01:21

Overview of Protein Metabolism

731
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.
Amino acids play various roles in the body once they are absorbed into cells. They are restructured...
731
Renal Corpuscle01:20

Renal Corpuscle

1.7K
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
The glomerulus is a tiny, intricate network of capillaries located at the beginning of the nephron. It's enveloped by the Bowman's capsule and receives its blood supply from an afferent arteriole, which divides into numerous...
1.7K
Chronic Pancreatitis I: Introduction01:24

Chronic Pancreatitis I: Introduction

72
The pancreas, an elongated and flat gland situated behind the stomach, serves a vital function in digesting food and managing blood sugar levels.
Pancreatitis is the inflammation of the pancreas, which occurs when the immune system becomes active and causes swelling, pain, and disruptions in organ function. Pancreatitis can manifest as either an acute or chronic condition.
Acute pancreatitis arises suddenly and lasts for a brief duration, while chronic pancreatitis is a long-term affliction...
72
Formation of Dilute Urine01:20

Formation of Dilute Urine

1.3K
The formation of dilute urine is a critical renal adaptation that maintains fluid balance, particularly during periods of high fluid intake. This process primarily involves the juxtamedullary nephrons. By adjusting the permeability of water and ions in response to physiological conditions, the kidneys can either conserve or excrete water, resulting in concentrated or dilute urine.
Filtrate Osmolarity in the PCT
Initially, as the filtrate passes through the proximal convoluted tubule (PCT), its...
1.3K

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Clinicodemographic and Genetic Profile of Children with Spinal Muscular Atrophy in Kerala, India: A Single-Center Experience.

Annals of Indian Academy of Neurology·2026
Same author

Congenital Anomalies of Kidney and Urinary Tract in Children - Clinical Spectrum and Complications.

Indian journal of pediatrics·2026
Same author

Reverse Phenotyping: Addressing Refractory Seizures From an Endocrine Perspective.

Cureus·2025
Same author

A nonsense mutation in the Tripartite motif containing 8 (TRIM8) gene, mimicking collagenopathy.

Pediatric nephrology (Berlin, Germany)·2024
Same author

Recurrent calcium oxalate calculi: the culprit in disguise.

Pediatric nephrology (Berlin, Germany)·2024
Same author

Thiamine-responsive megaloblastic anaemia.

The National medical journal of India·2024

Related Experiment Video

Updated: Jun 6, 2025

Isolation, Characterization, And High Throughput Extracellular Flux Analysis of Mouse Primary Renal Tubular Epithelial Cells
09:40

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

Published on: June 20, 2018

17.4K

Infantile nephrocalcinosis with chronic diarrhea.

Rehna K Rahman1, Vinitha Vijaya Raghavan2, Divya Pachat2

  • 1Department of Pediatrics, Aster MIMS (Malabar Institute of Medical Sciences), Calicut, Kerala, India, 673016. drrehnashabeer@gmail.com.

Pediatric Nephrology (Berlin, Germany)
|December 2, 2024
PubMed
Summary

A genetic variant causing congenital lactase deficiency led to enteric hyperoxaluria in an infant. Dietary lactose restriction improved hyperoxaluria, suggesting a link between lactase deficiency and this condition.

Keywords:
Chronic diarrheaHypercalciuriaHyperoxaluriaNephrocalcinosis

More Related Videos

5/6th Nephrectomy in Combination with High Salt Diet and Nitric Oxide Synthase Inhibition to Induce Chronic Kidney Disease in the Lewis Rat
08:50

5/6th Nephrectomy in Combination with High Salt Diet and Nitric Oxide Synthase Inhibition to Induce Chronic Kidney Disease in the Lewis Rat

Published on: July 3, 2013

23.5K
Author Spotlight: Developing a Bedside Protocol for Kidney and Genitourinary Ultrasonography
03:19

Author Spotlight: Developing a Bedside Protocol for Kidney and Genitourinary Ultrasonography

Published on: June 21, 2024

973

Related Experiment Videos

Last Updated: Jun 6, 2025

Isolation, Characterization, And High Throughput Extracellular Flux Analysis of Mouse Primary Renal Tubular Epithelial Cells
09:40

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

Published on: June 20, 2018

17.4K
5/6th Nephrectomy in Combination with High Salt Diet and Nitric Oxide Synthase Inhibition to Induce Chronic Kidney Disease in the Lewis Rat
08:50

5/6th Nephrectomy in Combination with High Salt Diet and Nitric Oxide Synthase Inhibition to Induce Chronic Kidney Disease in the Lewis Rat

Published on: July 3, 2013

23.5K
Author Spotlight: Developing a Bedside Protocol for Kidney and Genitourinary Ultrasonography
03:19

Author Spotlight: Developing a Bedside Protocol for Kidney and Genitourinary Ultrasonography

Published on: June 21, 2024

973

Area of Science:

  • Pediatric Nephrology
  • Medical Genetics
  • Gastroenterology

Background:

  • Nephrocalcinosis and hyperoxaluria can present in infants, sometimes linked to genetic factors.
  • Congenital lactase deficiency (CLD) is a rare disorder affecting lactose digestion.
  • Hypercalciuria and hyperoxaluria can contribute to kidney stone formation and renal damage.

Purpose of the Study:

  • To investigate the underlying cause of nephrocalcinosis, hypercalciuria, and hyperoxaluria in an infant.
  • To determine the genetic basis for the observed metabolic derangements.
  • To assess the impact of dietary intervention on clinical symptoms and biochemical markers.

Main Methods:

  • Clinical case presentation of a 3-month-old infant with relevant symptoms.
  • Biochemical analysis including urine and stool studies.
  • Whole exome sequencing (WES) for genetic variant identification.
  • Dietary intervention with lactose restriction and monitoring of outcomes.

Main Results:

  • The infant presented with dysuria, hematuria, chronic diarrhea, hypercalciuria, and nephrocalcinosis.
  • Stool analysis revealed reducing sugars, and symptoms improved with lactose restriction.
  • Whole exome sequencing identified a homozygous variant in the LCT gene (CLD) and a heterozygous variant in ADCY10 (absorptive hypercalciuria).
  • Hyperoxaluria resolved with dietary changes, while hypercalciuria persisted.

Conclusions:

  • The findings suggest an enteric hyperoxaluria phenotype secondary to congenital lactase deficiency.
  • Genetic variants in LCT and ADCY10 contribute to the complex presentation.
  • Dietary management is crucial for addressing metabolic disturbances in infants with genetic disorders affecting nutrient absorption.