A case of neonatal-onset type I hyperlipoproteinemia with bloody ascites
This report presents a case of a male infant, aged 32 days, who was admitted to the hospital due to 2 days of bloody stools and 1 day of fever. Upon admission, venous blood samples were collected, which appeared pink. Blood biochemistry tests revealed elevated levels of triglycerides and total cholesterol. The familial whole genome sequencing revealed a compound heterozygous variation in the LPL gene, with one variation inherited from the father and the other from the mother. The patient was diagnosed with lipoprotein lipase deficiency-related hyperlipoproteinemia. Acute symptoms including bloody stools, fever, and bloody ascites led to the consideration of acute pancreatitis, and the treatment involved fasting, plasma exchange, and whole blood exchange. Following the definitive diagnosis based on the genetic results, the patient was given a low-fat diet and received treatment with fat-soluble vitamins and trace elements, as well as adjustments to the feeding plan. After a 4-week hospitalization, the patient's condition improved and he was discharged. Follow-up showed a decrease in triglycerides and total cholesterol levels. At the age of 1 year, the patient's growth and psychomotor development were normal. This article emphasizes the multidisciplinary diagnosis and treatment of familial hyperlipoproteinemia presenting with symptoms suggestive of acute pancreatitis, including bloody ascites, in the neonatal period.
| Medienart: |
E-Artikel |
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| Erscheinungsjahr: |
2023 |
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| Erschienen: |
2023 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:25 |
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| Enthalten in: |
Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics - 25(2023), 12 vom: 15. Dez., Seite 1293-1298 |
| Sprache: |
Chinesisch |
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| Weiterer Titel: |
新生儿期起病伴血性腹水的Ⅰ型高脂蛋白血症1例 |
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| Beteiligte Personen: |
Chen, Yuan-Yuan [VerfasserIn] |
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| Links: |
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| Themen: |
97C5T2UQ7J |
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| Anmerkungen: |
Date Completed 21.12.2023 Date Revised 22.12.2023 published: Print Citation Status MEDLINE |
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| doi: |
10.7499/j.issn.1008-8830.2307113 |
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| funding: |
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| Förderinstitution / Projekttitel: |
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| PPN (Katalog-ID): |
NLM366028499 |
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| 245 | 1 | 2 | |a A case of neonatal-onset type I hyperlipoproteinemia with bloody ascites |
| 246 | 3 | 3 | |a 新生儿期起病伴血性腹水的Ⅰ型高脂蛋白血症1例 |
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| 520 | |a This report presents a case of a male infant, aged 32 days, who was admitted to the hospital due to 2 days of bloody stools and 1 day of fever. Upon admission, venous blood samples were collected, which appeared pink. Blood biochemistry tests revealed elevated levels of triglycerides and total cholesterol. The familial whole genome sequencing revealed a compound heterozygous variation in the LPL gene, with one variation inherited from the father and the other from the mother. The patient was diagnosed with lipoprotein lipase deficiency-related hyperlipoproteinemia. Acute symptoms including bloody stools, fever, and bloody ascites led to the consideration of acute pancreatitis, and the treatment involved fasting, plasma exchange, and whole blood exchange. Following the definitive diagnosis based on the genetic results, the patient was given a low-fat diet and received treatment with fat-soluble vitamins and trace elements, as well as adjustments to the feeding plan. After a 4-week hospitalization, the patient's condition improved and he was discharged. Follow-up showed a decrease in triglycerides and total cholesterol levels. At the age of 1 year, the patient's growth and psychomotor development were normal. This article emphasizes the multidisciplinary diagnosis and treatment of familial hyperlipoproteinemia presenting with symptoms suggestive of acute pancreatitis, including bloody ascites, in the neonatal period | ||
| 650 | 4 | |a Case Reports | |
| 650 | 4 | |a English Abstract | |
| 650 | 4 | |a Journal Article | |
| 650 | 4 | |a Familial hyperlipoproteinemia | |
| 650 | 4 | |a LPL gene | |
| 650 | 4 | |a Lipoprotein lipase deficiency | |
| 650 | 4 | |a Neonate | |
| 650 | 7 | |a Cholesterol |2 NLM | |
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| 650 | 7 | |a Lipoprotein Lipase |2 NLM | |
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| 650 | 7 | |a Triglycerides |2 NLM | |
| 700 | 1 | |a Hu, Li-Yuan |e verfasserin |4 aut | |
| 700 | 1 | |a Zhang, Ke |e verfasserin |4 aut | |
| 700 | 1 | |a Zhang, Xue-Ping |e verfasserin |4 aut | |
| 700 | 1 | |a Cao, Yun |e verfasserin |4 aut | |
| 700 | 1 | |a Yang, Lin |e verfasserin |4 aut | |
| 700 | 1 | |a Wu, Bing-Bing |e verfasserin |4 aut | |
| 700 | 1 | |a Zhou, Wen-Hao |e verfasserin |4 aut | |
| 700 | 1 | |a Wang, Jin |e verfasserin |4 aut | |
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