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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| hyperbilirubinemia | Gilbert syndrome Crigler-Najjar syndrome Dubin-Johnson syndrome Rotor syndrome PFIC BIRC |
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| Wilson disease | Leipzig score system was used for diagnosis, and the total score ≥4 points could be confirmed. The total score of 3 is suspected diagnosis, which requires further examination. A total score of 2 or less is not considered for diagnosis. |
| |
| Hemochromatosis | â‘ clinical manifestations of extensive skin pigmentation, bronzing; Decline to disappearance of sexual function; Mild hepatosplenomegaly, may appear jaundice; The heart is enlarged; Pain and swelling mainly in metacarpophalangeal joints; Decreased glucose tolerance and increased blood glucose; â‘¡ Serum iron was significantly increased, serum transferrin was normal or decreased, transferrin saturation was significantly increased, often more than 62%, serum ferritin was significantly increased, often more than 500ug/L; (3)/HJV/HAMP TFR2 / SLC40A1 HFE gene mutation. |
| |
| Glycogen accumulation disease | According to different types, there may be the following manifestations, which need specific analysis. â‘ Clinical manifestations of abdominal distension, fasting hypoglycemia and other symptoms; â‘¡ Laboratory examination showed metabolic acidosis, hyperlactic acidemia, hyperuricemia and hyperlipidemia; â‘¢ Abdominal CT showed enlarged liver volume; â‘£ Serum glucosidase activity decreased; (5) the GAA/G6PC/SLC374A/AGL/PYG/PHK gene mutations. |
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| There is no intervention | Other | The genotype of the patients was analyzed. |
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| Measure | Description | Time Frame |
|---|---|---|
| death | Death during the study was the outcome event | 5 years |
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Inclusion Criteria:
Meet the diagnostic criteria of each disease.
Exclusion Criteria:
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Patients with inherited metabolic liver disease
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| Other types of inherited metabolic liver disease |
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