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Background <p>Children with <i>LPIN-1</i> gene variant have recurrent acute myoglobinuria, rose-colored urine, general weakness, and fatigue. Treatment for this gene variant remains ameliorative and supportive. Here, we report the clinical data of three cases from Egypt. The age at onset of clinical symptoms was above 4.0&#xa0;years.</p> Purpose <p>This work aimed to delineate the clinical manifestations exhibited by affected pediatric cases of recurrent rhabdomyolysis with a novel <i>LPIN-1</i> variant and to provide a molecular characterization of this disease in Egypt, in order to raise awareness among both pediatricians and patients.</p> Subjects and methods <p>The study included three male cases: one from Damanhour city and two from Shebin El-Kom city. Gene expression analysis was performed using the “3billion” platform, which provides genetic testing for rare diseases and includes unlimited reanalysis that considers newly discovered diseases until diagnosis. Gene sequencing was conducted using the NovaSeq 6000 (Illumina, San Diego, CA, USA). A total of 9,346,770,115 bases of sequence were generated and uniquely aligned to the Genome Reference Consortium Human Build 37 (GRCh37) and the Revised Cambridge Reference Sequence (rCRS) of the mitochondrial genome. This resulted in a mean depth of coverage of 127.51 within the 34,412,807 bases of the captured regions, including approximately 99.3% of the Ref&#xa0;Seq protein coding region. About 99.00% of the targeted bases were covered to a depth of ≥ 20 × . Gene or exon level depth-of-coverage information is available upon request. Urine analysis, AST, CK, CKMB, troponin, creatinine, and electrolytes profiles were also conducted. These biochemical analysis were performed in Damanhour Teaching Hospital Lab.</p> Results <p>Patients had creatinine kinase (CK) levels of 147,660.70 ± 28,144.50 U/L compared to baseline levels (438.0 ± 215.90 U/L) and aspartate transaminases (AST) levels of 2034.20 ± 1770.00 U/L compared to baseline levels (110.66 ± 105.13 U/L), and myoglobinuria and positive <i>LPIN-1</i> gene deficiency expression with heterozygous likely pathogenic NM_001349206.2:c.26211GA variant and a heterozygous likely pathogenic 1.8-Kb deletion variant were identified. CK, AST, and urine color showed improvement after protective treatment.</p> Conclusion <p>Rhabdomyolysis and myoglobinuria in children can occur as a consequence of genetic mutation in the <i>LPIN-1</i> gene. The available treatment aims to ameliorate muscle damage, provide supportive care, and ensure general protective management.</p>

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LPIN-1 gene variant in Egyptian children: acute recurrent myoglobinuria

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2025年7月21日

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  • Tarek M. A. Abdallah,
  • Said S. El-Feky,
  • Nourhan A. A. Salem,
  • Ghada M. Mashaal,
  • Zaghloul E. Gouda

摘要

Background

Children with LPIN-1 gene variant have recurrent acute myoglobinuria, rose-colored urine, general weakness, and fatigue. Treatment for this gene variant remains ameliorative and supportive. Here, we report the clinical data of three cases from Egypt. The age at onset of clinical symptoms was above 4.0 years.

Purpose

This work aimed to delineate the clinical manifestations exhibited by affected pediatric cases of recurrent rhabdomyolysis with a novel LPIN-1 variant and to provide a molecular characterization of this disease in Egypt, in order to raise awareness among both pediatricians and patients.

Subjects and methods

The study included three male cases: one from Damanhour city and two from Shebin El-Kom city. Gene expression analysis was performed using the “3billion” platform, which provides genetic testing for rare diseases and includes unlimited reanalysis that considers newly discovered diseases until diagnosis. Gene sequencing was conducted using the NovaSeq 6000 (Illumina, San Diego, CA, USA). A total of 9,346,770,115 bases of sequence were generated and uniquely aligned to the Genome Reference Consortium Human Build 37 (GRCh37) and the Revised Cambridge Reference Sequence (rCRS) of the mitochondrial genome. This resulted in a mean depth of coverage of 127.51 within the 34,412,807 bases of the captured regions, including approximately 99.3% of the Ref Seq protein coding region. About 99.00% of the targeted bases were covered to a depth of ≥ 20 × . Gene or exon level depth-of-coverage information is available upon request. Urine analysis, AST, CK, CKMB, troponin, creatinine, and electrolytes profiles were also conducted. These biochemical analysis were performed in Damanhour Teaching Hospital Lab.

Results

Patients had creatinine kinase (CK) levels of 147,660.70 ± 28,144.50 U/L compared to baseline levels (438.0 ± 215.90 U/L) and aspartate transaminases (AST) levels of 2034.20 ± 1770.00 U/L compared to baseline levels (110.66 ± 105.13 U/L), and myoglobinuria and positive LPIN-1 gene deficiency expression with heterozygous likely pathogenic NM_001349206.2:c.26211GA variant and a heterozygous likely pathogenic 1.8-Kb deletion variant were identified. CK, AST, and urine color showed improvement after protective treatment.

Conclusion

Rhabdomyolysis and myoglobinuria in children can occur as a consequence of genetic mutation in the LPIN-1 gene. The available treatment aims to ameliorate muscle damage, provide supportive care, and ensure general protective management.