Related Experiment Video

Updated: Nov 24, 2025

Generation of Human Kidney Tubuloids from Tissue and Urine
08:34

Generation of Human Kidney Tubuloids from Tissue and Urine

Published on: April 16, 2021

5.3K

Outcome of primary tubular tubulopathies diagnosed in pediatric age

Cristina Julia Blázquez Gómez1, Helena Gil-Peña1, Flor A Ordóñez Álvarez1

  • 1Hospital Universitario Central de Asturias, Oviedo, Asturias, España.

Nefrologia
|December 28, 2020
PubMed

Insights

Primary tubulopathies in children cause growth issues and potential kidney damage. Early diagnosis and treatment can improve growth outcomes and manage complications, though long-term monitoring is crucial.

Area of Science:

  • Pediatric Nephrology
  • Genetics
  • Rare Diseases

Background:

  • Primary tubulopathies are rare genetic disorders typically diagnosed in childhood.
  • Advances in genetic diagnostics and therapeutics have significantly impacted their natural history.
  • Understanding the clinical spectrum and long-term outcomes is essential for effective management.

Purpose of the Study:

  • To describe the clinical spectrum of primary tubulopathies diagnosed in a pediatric nephrology unit.
  • To provide long-term follow-up data on growth, renal function, and complications.
  • To highlight the impact of genetic defects on disease presentation and progression.

Main Methods:

  • An observational study involving 53 patients with genetically confirmed primary tubulopathies.
  • Data collection included demographics, clinical manifestations, and laboratory results at diagnosis and during follow-up.
  • Specific tubulopathies analyzed included Gitelman syndrome, distal renal tubular acidosis, cystinuria, and others.

Main Results:

  • The median age at diagnosis was 5.08 years, with short stature (38%) and metabolic decompensations (40%) as common presentations.
  • Long-term follow-up (median 18.92 years) showed significant growth improvement (height SDS from -1.39 to 1.07).
  • 32% experienced reduced estimated glomerular filtration rate (<90ml/min/1.73m²), 3 required renal replacement therapy, and extrarenal complications (stones, deafness) were noted.

Conclusions:

  • Primary tubulopathies are a diverse group of conditions impacting growth and renal function.
  • Treatment can largely reverse growth impairment.
  • Patients face risks of reduced kidney function and significant extrarenal complications requiring ongoing management.
Abstract

Keywords:
Acidosis tubular renalChronic kidney diseaseCistinosisCrecimientoEnfermedad renal crónicaGitelman syndromeGrowthHipofosfatemia ligada a XRenal tubular acidosisRenal tubulopathiesSíndrome de GitelmanTubulopatías renalesX-linked hypophosphatemia

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

11.7K
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

18.2K

Related Concept Videos

Renal Tubule and Collecting Duct01:24

Renal Tubule and Collecting Duct

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...
2.5K
Acute Kidney Injury II: Pathophysiology01:29

Acute Kidney Injury II: Pathophysiology

Acute kidney injury (AKI) causes are categorized into three primary categories based on the location of the injury: prerenal, intrarenal (or intrinsic), and postrenal causes. This classification guides clinical management and illustrates how different pathways can impair kidney function.Etiology and Pathophysiology of Acute Kidney Injury1. Prerenal causesEtiology: Prerenal Acute Kidney Injury, the most common type, occurs when reduced blood flow to the kidneys decreases filtration capacity...
567
Pharmacokinetics in Pediatric Patients: Drug Metabolism01:24

Pharmacokinetics in Pediatric Patients: Drug Metabolism

In pediatric care, understanding the nuances of hepatic drug metabolism is crucial, as it significantly differs from that of adults. This divergence is primarily due to the developmental stage of drug-metabolizing enzymes, which affects how medications are processed in the body. In neonates, for instance, the activity of Phase I enzymes—critical for the initial breakdown of drugs—is markedly reduced, functioning at just 20–40% of the levels seen in adults. This reduction poses...
90
Pharmacokinetics in Pediatric Patients: Drug Excretion01:26

Pharmacokinetics in Pediatric Patients: Drug Excretion

In pediatric medicine, understanding the renal function and drug elimination nuances is crucial for administering safe and effective treatments. Newborns, in particular, display markedly slower renal functions than adults, profoundly affecting how drugs are cleared from their bodies. This slower drug clearance requires clinicians to extend the dosing intervals for many medications to prevent drug accumulation and toxicity while ensuring therapeutic efficacy.One key area where these adjustments...
110
Nephrons01:10

Nephrons

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...
5.2K
Urinary Tract Infection II: Pathophysiology01:25

Urinary Tract Infection II: Pathophysiology

The pathophysiology of urinary tract infections (UTIs) encompasses several progressive stages, beginning with bacterial colonization and culminating in potential systemic complications if untreated. UTIs are primarily initiated by bacteria, such as Escherichia coli, which often originate from the gastrointestinal tract and migrate to the urinary system through the periurethral area. This migration can occur via several routes, including improper hygiene practices, sexual activity, or...
302