A rare case of pediatric recurrent rhabdomyolysis with compound heterogenous variants in the LPIN1
Abstract Background Lipin-1, encoded by LPIN1 gene, serves as an enzyme and a transcriptional co-regulator to regulate lipid metabolism and mitochondrial respiratory chain. Autosomal recessive mutations in LPIN1 were recognized as one of the most common causes of pediatric recurrent rhabdomyolysis i...
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| Format: | Article |
| Language: | English |
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BMC
2020-05-01
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| Series: | BMC Pediatrics |
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| Online Access: | http://link.springer.com/article/10.1186/s12887-020-02134-5 |
| _version_ | 1818160098281783296 |
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| author | Ruochen Che Chunli Wang Bixia Zheng Xuejuan Zhang Guixia Ding Fei Zhao Zhanjun Jia Aihua Zhang Songming Huang Quancheng Feng |
| author_facet | Ruochen Che Chunli Wang Bixia Zheng Xuejuan Zhang Guixia Ding Fei Zhao Zhanjun Jia Aihua Zhang Songming Huang Quancheng Feng |
| author_sort | Ruochen Che |
| collection | DOAJ |
| description | Abstract Background Lipin-1, encoded by LPIN1 gene, serves as an enzyme and a transcriptional co-regulator to regulate lipid metabolism and mitochondrial respiratory chain. Autosomal recessive mutations in LPIN1 were recognized as one of the most common causes of pediatric recurrent rhabdomyolysis in western countries. However, to date, there were only a few cases reported in Asian group. This study aims to report the first pediatric case of recurrent rhabdomyolysis with a novel LPIN1 mutation in China mainland in order to raise the awareness of both pediatricians and patients. Case presentations Here we report a Chinese pediatric case of recurrent rhabdomyolysis with compound heterozygous variants (p.Arg388* and p.Arg810Cys) in the LPIN1 gene. The c.2428C > T was a novel missense variant involved Arg-to-Cys substitution at position 810 (p.Arg810Cys), located in the highly conserved region which predicted to be damaging by multiple algorithms. The patient manifested as cola-colored urine, muscle weakness and tenderness, as well as acute kidney injury with peak blood creatine kinase level 109,570 U/l in 19-month old. In his second episode of 9 years old, the symtoms were relatively milder with peak creatine kinase level 50,948 U/l. He enjoyed quite normal life between the bouts but slightly elevation of serum creatine kinase level during the fever or long-term exercises. Prolonged weight training combined with calorie deprivation were speculated to be the triggers of his illness. Prompt symptomatic therapy including fluid therapy and nutritional support was given and the patient recovered soon. Conclusions LPIN1-related rhabdomyolysis is still quite new to physicians due to its seemly low-incidence especially in Asian countries. In the future, more active genetic test strategy and detailed prophylactic care education should be taken in patients with severe recurrent rhabdomyolysis, who are the high risk group of LPIN1 genetic defects. |
| first_indexed | 2024-12-11T15:56:28Z |
| format | Article |
| id | doaj.art-67a088f21c8a44f6888188585a5c90ec |
| institution | Directory Open Access Journal |
| issn | 1471-2431 |
| language | English |
| last_indexed | 2024-12-11T15:56:28Z |
| publishDate | 2020-05-01 |
| publisher | BMC |
| record_format | Article |
| series | BMC Pediatrics |
| spelling | doaj.art-67a088f21c8a44f6888188585a5c90ec2022-12-22T00:59:26ZengBMCBMC Pediatrics1471-24312020-05-012011610.1186/s12887-020-02134-5A rare case of pediatric recurrent rhabdomyolysis with compound heterogenous variants in the LPIN1Ruochen Che0Chunli Wang1Bixia Zheng2Xuejuan Zhang3Guixia Ding4Fei Zhao5Zhanjun Jia6Aihua Zhang7Songming Huang8Quancheng Feng9Department of Nephrology, Children’s Hospital of Nanjing Medical UniversityNanjing Key Laboratory of Pediatrics, Children’s Hospital of Nanjing Medical UniversityNanjing Key Laboratory of Pediatrics, Children’s Hospital of Nanjing Medical UniversityDepartment of Nephrology, Children’s Hospital of Nanjing Medical UniversityDepartment of Nephrology, Children’s Hospital of Nanjing Medical UniversityDepartment of Nephrology, Children’s Hospital of Nanjing Medical UniversityNanjing Key Laboratory of Pediatrics, Children’s Hospital of Nanjing Medical UniversityDepartment of Nephrology, Children’s Hospital of Nanjing Medical UniversityDepartment of Nephrology, Children’s Hospital of Nanjing Medical UniversityDepartment of Nephrology, Children’s Hospital of Nanjing Medical UniversityAbstract Background Lipin-1, encoded by LPIN1 gene, serves as an enzyme and a transcriptional co-regulator to regulate lipid metabolism and mitochondrial respiratory chain. Autosomal recessive mutations in LPIN1 were recognized as one of the most common causes of pediatric recurrent rhabdomyolysis in western countries. However, to date, there were only a few cases reported in Asian group. This study aims to report the first pediatric case of recurrent rhabdomyolysis with a novel LPIN1 mutation in China mainland in order to raise the awareness of both pediatricians and patients. Case presentations Here we report a Chinese pediatric case of recurrent rhabdomyolysis with compound heterozygous variants (p.Arg388* and p.Arg810Cys) in the LPIN1 gene. The c.2428C > T was a novel missense variant involved Arg-to-Cys substitution at position 810 (p.Arg810Cys), located in the highly conserved region which predicted to be damaging by multiple algorithms. The patient manifested as cola-colored urine, muscle weakness and tenderness, as well as acute kidney injury with peak blood creatine kinase level 109,570 U/l in 19-month old. In his second episode of 9 years old, the symtoms were relatively milder with peak creatine kinase level 50,948 U/l. He enjoyed quite normal life between the bouts but slightly elevation of serum creatine kinase level during the fever or long-term exercises. Prolonged weight training combined with calorie deprivation were speculated to be the triggers of his illness. Prompt symptomatic therapy including fluid therapy and nutritional support was given and the patient recovered soon. Conclusions LPIN1-related rhabdomyolysis is still quite new to physicians due to its seemly low-incidence especially in Asian countries. In the future, more active genetic test strategy and detailed prophylactic care education should be taken in patients with severe recurrent rhabdomyolysis, who are the high risk group of LPIN1 genetic defects.http://link.springer.com/article/10.1186/s12887-020-02134-5ChineseGenetic defectLPIN1Novel missense variantRecurrent rhabdomyolysisCase report |
| spellingShingle | Ruochen Che Chunli Wang Bixia Zheng Xuejuan Zhang Guixia Ding Fei Zhao Zhanjun Jia Aihua Zhang Songming Huang Quancheng Feng A rare case of pediatric recurrent rhabdomyolysis with compound heterogenous variants in the LPIN1 BMC Pediatrics Chinese Genetic defect LPIN1 Novel missense variant Recurrent rhabdomyolysis Case report |
| title | A rare case of pediatric recurrent rhabdomyolysis with compound heterogenous variants in the LPIN1 |
| title_full | A rare case of pediatric recurrent rhabdomyolysis with compound heterogenous variants in the LPIN1 |
| title_fullStr | A rare case of pediatric recurrent rhabdomyolysis with compound heterogenous variants in the LPIN1 |
| title_full_unstemmed | A rare case of pediatric recurrent rhabdomyolysis with compound heterogenous variants in the LPIN1 |
| title_short | A rare case of pediatric recurrent rhabdomyolysis with compound heterogenous variants in the LPIN1 |
| title_sort | rare case of pediatric recurrent rhabdomyolysis with compound heterogenous variants in the lpin1 |
| topic | Chinese Genetic defect LPIN1 Novel missense variant Recurrent rhabdomyolysis Case report |
| url | http://link.springer.com/article/10.1186/s12887-020-02134-5 |
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