Variable manifestations in lysinuric protein intolerance: a report of two novel mutations from Bahrain
Background: Lysinuric protein intolerance (LPI) is a metabolic disorder resulting from mutations in the SLC7A7 gene that is inherited in the autosomal recessive pattern. The disease has been described sporadically worldwide, including a few cases from Arab countries. The affected patients typically...
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| Format: | Article |
| Language: | English |
| Published: |
Discover STM Publishing Ltd
2020-06-01
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| Series: | Journal of Biochemical and Clinical Genetics |
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| Online Access: | http://www.ejmanager.com/fulltextpdf.php?mno=85358 |
| _version_ | 1797816643238232064 |
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| author | Emtithal Aljishi Zahra Alsahlawi Mohammed Taha Abdulla Alshaiji Zakiya Almosawi Osama Abelkarim Hasan Isa Khulood Alsaad Ali Ebrahim |
| author_facet | Emtithal Aljishi Zahra Alsahlawi Mohammed Taha Abdulla Alshaiji Zakiya Almosawi Osama Abelkarim Hasan Isa Khulood Alsaad Ali Ebrahim |
| author_sort | Emtithal Aljishi |
| collection | DOAJ |
| description | Background: Lysinuric protein intolerance (LPI) is a metabolic disorder resulting from mutations in the SLC7A7 gene that is inherited in the autosomal recessive pattern. The disease has been described sporadically worldwide, including a few cases from Arab countries. The affected patients typically present with failure to thrive, hepatosplenomegaly, and protein intolerance. Various complications such as autoimmune disorders, infiltrative lung disease, hemophagocytic lymphohistiocytosis (HLH), and neurological manifestations could be noted during the disease course.
Methodology: We described patients diagnosed with LPI in Bahrain by reviewing their presentations, complications encountered, genetic variability, and treatment options.
Results: Four patients, two males and two females from three families with an age range between 2 and 14 years, were followed. Failure to thrive and HLH were the main presenting features in all patients. Two novel mutations were detected in the SLC7A7 gene. One of them was a homozygous splice-site mutation of c.1429+1G>C., whereas the second mutation was a homozygous missense mutation of c.168T>G p. (Phe56Leu). Lung complications were found in two patients, autoimmunity observed in two patients, gastrointestinal complication presenting as hemorrhagic gastritis in one patient, and neurological complications were seen in one patient.
Conclusion: The main presenting feature in all the patients was HLH. Two novel mutations in the SLC7A7 gene were detected. Rheumatological complications were variable within the same family members; moreover, hemorrhagic gastritis was reported in one of the patients as a new possible complication related to the disease. [JBCGenetics 2020; 3(1.000): 7-13] |
| first_indexed | 2024-03-13T08:40:44Z |
| format | Article |
| id | doaj.art-1274066b6b714d74af5db2f4bc056ada |
| institution | Directory Open Access Journal |
| issn | 1658-807X |
| language | English |
| last_indexed | 2024-03-13T08:40:44Z |
| publishDate | 2020-06-01 |
| publisher | Discover STM Publishing Ltd |
| record_format | Article |
| series | Journal of Biochemical and Clinical Genetics |
| spelling | doaj.art-1274066b6b714d74af5db2f4bc056ada2023-05-30T11:46:08ZengDiscover STM Publishing LtdJournal of Biochemical and Clinical Genetics1658-807X2020-06-013171310.24911/JBCGenetics/183-158080887985358Variable manifestations in lysinuric protein intolerance: a report of two novel mutations from BahrainEmtithal Aljishi0Zahra Alsahlawi1Mohammed Taha2Abdulla Alshaiji3Zakiya Almosawi4Osama Abelkarim5Hasan Isa6Khulood Alsaad7Ali Ebrahim8Pediatric Department, Salmaniya Medical Complex, Manama, Kingdom of Bahrain Pediatric Department, Salmaniya Medical Complex, Manama, Kingdom of Bahrain Arabian Gulf University, Manama, Kingdom of Bahrain Arabian Gulf University, Manama, Kingdom of Bahrain Pediatric Department, Salmaniya Medical Complex, Manama, Kingdom of Bahrain Pediatric Department, Salmaniya Medical Complex, Manama, Kingdom of Bahrain Pediatric Department, Salmaniya Medical Complex, Manama, Kingdom of Bahrain Pediatric Department, Salmaniya Medical Complex, Manama, Kingdom of Bahrain Alhekmha Pediatric Consultation Clinic, Manama, Kingdom of BahrainBackground: Lysinuric protein intolerance (LPI) is a metabolic disorder resulting from mutations in the SLC7A7 gene that is inherited in the autosomal recessive pattern. The disease has been described sporadically worldwide, including a few cases from Arab countries. The affected patients typically present with failure to thrive, hepatosplenomegaly, and protein intolerance. Various complications such as autoimmune disorders, infiltrative lung disease, hemophagocytic lymphohistiocytosis (HLH), and neurological manifestations could be noted during the disease course. Methodology: We described patients diagnosed with LPI in Bahrain by reviewing their presentations, complications encountered, genetic variability, and treatment options. Results: Four patients, two males and two females from three families with an age range between 2 and 14 years, were followed. Failure to thrive and HLH were the main presenting features in all patients. Two novel mutations were detected in the SLC7A7 gene. One of them was a homozygous splice-site mutation of c.1429+1G>C., whereas the second mutation was a homozygous missense mutation of c.168T>G p. (Phe56Leu). Lung complications were found in two patients, autoimmunity observed in two patients, gastrointestinal complication presenting as hemorrhagic gastritis in one patient, and neurological complications were seen in one patient. Conclusion: The main presenting feature in all the patients was HLH. Two novel mutations in the SLC7A7 gene were detected. Rheumatological complications were variable within the same family members; moreover, hemorrhagic gastritis was reported in one of the patients as a new possible complication related to the disease. [JBCGenetics 2020; 3(1.000): 7-13]http://www.ejmanager.com/fulltextpdf.php?mno=85358lysinuric protein intolerancehemophagocytic lymphohistiocytosispulmonary alveolar proteinosisosteoporosishemorrhagic gastritis |
| spellingShingle | Emtithal Aljishi Zahra Alsahlawi Mohammed Taha Abdulla Alshaiji Zakiya Almosawi Osama Abelkarim Hasan Isa Khulood Alsaad Ali Ebrahim Variable manifestations in lysinuric protein intolerance: a report of two novel mutations from Bahrain Journal of Biochemical and Clinical Genetics lysinuric protein intolerance hemophagocytic lymphohistiocytosis pulmonary alveolar proteinosis osteoporosis hemorrhagic gastritis |
| title | Variable manifestations in lysinuric protein intolerance: a report of two novel mutations from Bahrain |
| title_full | Variable manifestations in lysinuric protein intolerance: a report of two novel mutations from Bahrain |
| title_fullStr | Variable manifestations in lysinuric protein intolerance: a report of two novel mutations from Bahrain |
| title_full_unstemmed | Variable manifestations in lysinuric protein intolerance: a report of two novel mutations from Bahrain |
| title_short | Variable manifestations in lysinuric protein intolerance: a report of two novel mutations from Bahrain |
| title_sort | variable manifestations in lysinuric protein intolerance a report of two novel mutations from bahrain |
| topic | lysinuric protein intolerance hemophagocytic lymphohistiocytosis pulmonary alveolar proteinosis osteoporosis hemorrhagic gastritis |
| url | http://www.ejmanager.com/fulltextpdf.php?mno=85358 |
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