Related Experiment Video

Updated: Sep 27, 2025

Implementation of Non-invasive Point of Care Transient Elastography for Evaluation of Liver Disease in Pediatric Populations with Cystic Fibrosis
05:56

Implementation of Non-invasive Point of Care Transient Elastography for Evaluation of Liver Disease in Pediatric Populations with Cystic Fibrosis

Published on: August 29, 2025

107

Newborn Screening: Review of its Impact for Cystinosis

Katharina Hohenfellner1, Ewa Elenberg2, Gema Ariceta3

  • 1Department of Pediatric Nephrology, RoMed Clinis, Pettenkoferstr. 10, 83022 Rosenheim, Germany.

Cells
|April 12, 2022
PubMed

Insights

Newborn screening (NBS) can prevent childhood disease and mortality. This review highlights the importance of NBS for infantile nephropathic cystinosis (INC) using molecular technologies for early diagnosis and treatment.

Area of Science:

  • Medical Genetics
  • Pediatric Nephrology
  • Public Health

Background:

  • Newborn screening (NBS) is a vital public health strategy for early detection and treatment of childhood diseases, reducing morbidity and mortality.
  • Implementing new NBS targets requires rigorous evaluation of scientific, analytical, IT, and logistical aspects, alongside ethical and financial considerations.
  • Infantile nephropathic cystinosis (INC) is a rare lysosomal disorder treatable with cysteamine, enabling patients to reach adulthood if diagnosed early.

Purpose of the Study:

  • To review the principles and importance of newborn screening (NBS).
  • To discuss the significance of applying molecular technologies to NBS for infantile nephropathic cystinosis (INC).
  • To highlight the benefits of early INC diagnosis for initiating timely cysteamine therapy and improving patient outcomes.

Main Methods:

  • Review of existing literature on newborn screening programs and infantile nephropathic cystinosis.
  • Analysis of the feasibility of using molecular technologies for cystinosis detection in a pilot screening project.
  • Discussion of the scientific, analytical, and logistical requirements for integrating INC into NBS.

Main Results:

  • Newborn screening (NBS) demonstrates success in preventing or reducing childhood disease burden.
  • Molecular technologies have proven feasible for detecting cystinosis in pilot newborn screening initiatives.
  • Early diagnosis of INC through NBS allows for prompt initiation of cysteamine treatment, crucial for renal and overall patient survival.

Conclusions:

  • Newborn screening (NBS) is a critical tool for secondary prevention in childhood.
  • Integrating infantile nephropathic cystinosis (INC) into NBS using molecular technologies is feasible and highly beneficial.
  • Early detection of INC via NBS significantly improves patient prognosis and long-term survival.

Keywords:
CTNS-pathogenic variantsclinical courseinfantile nephropathic cystinosisnewborn screeningnewborn screening for cystinosis

More Related Videos

One-step Metabolomics: Carbohydrates, Organic and Amino Acids Quantified in a Single Procedure09:28

One-step Metabolomics: Carbohydrates, Organic and Amino Acids Quantified in a Single Procedure

Published on: June 25, 2010

13.3K
Optimized LC-MS/MS Method for the High-throughput Analysis of Clinical Samples of Ivacaftor, Its Major Metabolites, and Lumacaftor in Biological Fluids of Cystic Fibrosis Patients06:14

Optimized LC-MS/MS Method for the High-throughput Analysis of Clinical Samples of Ivacaftor, Its Major Metabolites, and Lumacaftor in Biological Fluids of Cystic Fibrosis Patients

Published on: October 15, 2017

8.4K

Related Concept Videos

Cystic Fibrosis: Pathogenesis01:23

Cystic Fibrosis: Pathogenesis

Cystic fibrosis (CF), an autosomal recessive disorder, significantly affects the function of exocrine glands. This genetically inherited disease is characterized by the production of thick and sticky mucus, which can severely affect various organs and systems in the body.
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation,...
382
Cystic Fibrosis: Management01:24

Cystic Fibrosis: Management

Cystic fibrosis (CF) is an autosomal recessive disorder that predominantly affects individuals of Northern European descent, occurring at a rate of 1 in 3500. It is caused by a genetic mutation in a gene on chromosome 7, most commonly the ΔF508 mutation, that codes for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. This results in thicker mucus secretions and obstruction pathologies in multiple organs, including the lungs and sinuses.
Sinus disease and chronic...
230
Urinary Tract Calculi I: Introduction01:28

Urinary 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...
63
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...
289
Urine Studies II: Urine Culture and Sensitivity Test01:26

Urine Studies II: Urine Culture and Sensitivity Test

A urine culture and sensitivity test is a diagnostic procedure used to identify urinary tract bacterial infections and determine the most effective antibiotics for treatment. This test is generally preferred when a patient shows manifestations of a urinary tract infection, such as frequent or painful urination, cloudy or foul-smelling urine, or lower abdominal pain.Purpose of the TestThe primary goals of a urine culture and sensitivity test are to:Determine the specific bacteria causing the...
162