Related Experiment Video

Updated: Sep 13, 2025

A Precision Medicine Tool for Measurement and Monitoring of Hemoglobin S in Sickle Cell Disease Patients Receiving Transfusion Therapy
07:24

A Precision Medicine Tool for Measurement and Monitoring of Hemoglobin S in Sickle Cell Disease Patients Receiving Transfusion Therapy

1.8K

Clinical and Genetic Predictors of Sickle Cell Nephropathy: A Global Systematic Review

Kambe Banda1, Arthemon Nguweneza1, Khuthala Mnika1

  • 1Division of Human Genetics, Department of Pathology, University of Cape Town, Cape Town, South Africa.

Omics : a Journal of Integrative Biology
|July 28, 2025
PubMed

Insights

Sickle cell nephropathy (SCN) risk factors, including genetic variants like APOL1 and HMOX1, are identified in this global review. More research is needed in Africa to improve early detection and management of kidney disease in sickle cell disease (SCD) patients.

Area of Science:

  • Nephrology
  • Hematology
  • Genetics

Background:

  • Sickle cell disease (SCD) affects 300,000 newborns globally, with 80% in Africa.
  • Sickle cell nephropathy (SCN) impacts 5-18% of SCD patients, significantly increasing morbidity and mortality.
  • Identifying SCN risk factors is crucial for effective clinical management and public health strategies.

Purpose of the Study:

  • To conduct a global systematic review exploring clinical and genetic factors associated with sickle cell nephropathy (SCN).
  • To identify predictors of SCN across diverse global populations.
  • To summarize current evidence on SCN risk factors and highlight research gaps.

Main Methods:

  • Systematic review adhering to PRISMA guidelines (PROSPERO registration: CRD42020185763).
  • Inclusion of cohort, case-control, and cross-sectional studies published up to December 31, 2024.
  • Analysis of 70 hospital-based studies, with a focus on clinical and genetic predictors of SCN.

Main Results:

  • Genetic associations identified with alpha-thalassemia, APOL1, and HMOX1 genes.
  • A genome-wide association study suggested variants in CRYL1, VWF, ADAMTS7, LRP1B, linc02288, and FPGT-TNNI3K/TNNI3K.
  • Consistent association of SCN with the 3.7 Kb deletion in HBA and variants in APOL1 and HMOX1 genes.

Conclusions:

  • Clinical, genetic, and biochemical factors play a significant role in SCN pathogenesis and progression.
  • This review highlights the consistent association of SCN with specific genetic factors, including APOL1 and HMOX1.
  • There is a critical need for more research, particularly large-scale prospective studies in African SCN cohorts, to address data paucity and improve SCN risk identification and management.

Keywords:
genetic predictorskidneynephropathyrisk factorssickle cell diseasesystematic review

More Related Videos

5/6 Nephrectomy Using Sharp Bipolectomy Via Midline Laparotomy in Rats05:34

5/6 Nephrectomy Using Sharp Bipolectomy Via Midline Laparotomy in Rats

Published on: April 4, 2025

856
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

Related Concept Videos

Chronic Kidney Disease I: Introduction01:25

Chronic Kidney Disease I: Introduction

Chronic Kidney Disease (CKD) arises when the kidneys progressively lose their ability to function, ultimately leading to end-stage renal disease. At this advanced stage, the kidneys can no longer filter waste or maintain essential body functions, requiring renal replacement therapy (RRT) through dialysis or a kidney transplant for survival.Early-stage chronic kidney disease and detection challengesIn CKD's early stages, symptoms often remain absent because healthy nephrons compensate for...
73
Chronic Kidney Disease II: Clinical Manifestations01:24

Chronic Kidney Disease II: Clinical Manifestations

Chronic Kidney Disease (CKD) progressively impairs multiple body systems due to the accumulation of uremic toxins, which disrupt cellular functions across various organs.Neurologic symptomsNeurologic symptoms often arise early in CKD, as uremic toxin buildup drives changes in cognitive and motor functions. Patients frequently experience fatigue, headache, confusion, difficulty concentrating, and, in severe cases, seizures. Peripheral neuropathy commonly manifests as burning sensations in the...
96
Acute Kidney Injury IV: Diagnostic Studies and Prevention01:30

Acute Kidney Injury IV: Diagnostic Studies and Prevention

Accurate diagnosis and effective prevention are critical in managing Acute Kidney Injury (AKI), which is linked to high mortality rates ranging from 10% to 80%. Timely recognition of at-risk patients and careful monitoring can significantly reduce the likelihood of kidney damage.Diagnostic Assessments:The diagnostic process starts with a comprehensive medical history to identify prerenal, intrarenal, and postrenal causes.Prerenal causes, such as dehydration, hypotension, or blood loss, should...
57
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...
29
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...
80
Single Nucleotide Polymorphisms-SNPs01:05

Single Nucleotide Polymorphisms-SNPs

A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
15.9K