Genetic analysis and outcomes of Omani children with steroid‐resistant nephrotic syndrome

Molecular Genetics & Genomic Medicine · 13 authors, 7 centres

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TL;DR

This retrospective cohort study analyzed 77 Omani children from 50 families with steroid-resistant nephrotic syndrome over a 15-year period.

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This retrospective cohort study analyzed 77 Omani children from 50 families with steroid-resistant nephrotic syndrome over a 15-year period. A limitation is that 15 of the 17 genetically undiagnosed cases were only screened for NPHS1 and NPHS2, meaning alternative diagnoses may have been missed. Results support NGS screening of all known nephrotic syndrome genes in children with this phenotype to guide management and genetic counseling.

STUDY TYPE

cohort

SPECIALTY

pediatrics

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ORIGINAL PAPER

PMC10496054

Genetic analysis and outcomes of Omani children with steroid‐resistant nephrotic syndrome

Molecular Genetics & Genomic Medicine

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ABSTRACT

Abstract Background Nephrotic syndrome (NS) is one of the most common kidney disorders seen by pediatric nephrologists and is defined by the presence of heavy proteinuria (>3.5 g/24 h), hypoalbuminemia (<3.5 g/dL), edema, and hyperlipidemia. Most children with NS are steroid‐responsive and have a good prognosis following treatment with prednisolone. However, 10%–20% of them have steroid‐resistant nephrotic syndrome (SRNS) and fail to respond to treatment. A significant proportion of these children progress to kidney failure. Methods This retrospective study aimed to determine the underlying genetic causes of SRNS among Omani children below 13 years old, over a 15‐year period and included 77 children from 50 different families. We used targeted Sanger sequencing combined with next‐generation sequencing approaches to perform molecular diagnostics. Results We found a high rate of underlying genetic causes of SRNS in 61 (79.2%) children with pathogenic variants in the associated genes. Most of these genetically solved SRNS patients were born to consanguineous parents and variants were in the homozygous state. Pathogenic variants in NPHS2 were the most common cause of SRNS in our study seen in 37 (48.05%) cases. Pathogenic variants in NPHS1 were also seen in 16 cases, especially in infants with congenital nephrotic syndrome (CNS). Other genetic causes identified included pathogenic variants in LAMB2 , PLCE1 , MYO1E , and NUP93 . Conclusion NPHS2 and NPHS1 genetic variants were the most common inherited causes of SRNS in Omani children. However, patients with variants in several other SRNS causative genes were also identified. We recommend screening for all genes responsible for SRNS in all children who present with this phenotype, which will assist in clinical management decisions and genetic counseling for the affected families.

CITATION EXPORT

Mohamed S. Al Riyami, Intisar Al Alawi, Badria Al Gaithi et al.. Genetic analysis and outcomes of Omani children with steroid‐resistant nephrotic syndrome. Molecular Genetics & Genomic Medicine. (2023). https://doi.org/10.1002/mgg3.2201

AUTHORS

13 · 7 CENTRES

Mohamed S. Al Riyami, Intisar Al Alawi, Badria Al Gaithi, Anisa Al Maskari, Naifain Al Kalbani, Nadia Al Hashmi, Aisha Al Balushi, Maryam Al Shahi, Suliman Al Saidi, Muna Al Bimani, Fahad Al Hatali, Holly Mabillard, John A. Sayer

1 Pediatric Nephrology Unit, Department of Child Healthy Royal Hospital Muscat Oman
2 Translational and Clinical Research Institute, Faculty of Medical Science Newcastle University Newcastle upon Tyne UK
3 National Genetic Center, Ministry of Health Muscat Oman
4 Pediatric Metabolic and Genetic Disorder Unit Royal Hospital Muscat Oman
5 Pediatric Clinical Genetic Unit, Royal Hospital, Department of Child Health Royal Hospital Muscat Oman
6 Renal Services The Newcastle upon Tyne Hospitals NHS Foundation Trust Newcastle upon Tyne UK
7 Newcastle Biomedical Research Center, NIHR Newcastle upon Tyne UK