Research on the Clinical Characteristics and Key Diagnosis and Treatment Technology of Genetic and Metabolic Liver Disease

Sujun Zheng

Status: Not yet enrolling

Conditions: Diagnosis ， Treatment， Genetic and Metabolic Liver Disease

Treatments: Other: There is no intervention

Study type: Observational

Funder types: Other

Identifiers

NCT05601557

LL-2022-048-K

Details and patient eligibility

About

1. Establish a follow-up cohort of genetic and metabolic liver disease in The Chinese population, and carry out research on disease spectrum, clinical characteristics and personalized diagnosis and treatment to improve the level of diagnosis and treatment.
2. Establish a multidisciplinary collaborative diagnosis and treatment model of genetic metabolic liver disease, develop and promote diagnosis and treatment paths, and improve the diagnosis and treatment ability of genetic metabolic liver disease in Beijing and even the whole country.
3. Establish a new CRISPR gene diagnosis technology to realize fast and low-cost genetic testing.
4. Elucidating the genetic mutation spectrum of common genetic and metabolic liver disease in China is helpful to accurate gene diagnosis and functional research.
5. Study the genotype-phenotype, mutation and clinical outcome relationship and influencing factors of the common genetic and metabolic liver disease population in China, to guide the early diagnosis, early treatment and improve the prognosis.

Enrollment: 480 estimated patients

Sex: All

Ages: Under 80 years old

Volunteers: Accepts Healthy Volunteers

Inclusion criteria

Meet the diagnostic criteria of each disease.

Exclusion criteria

1. Co-infected with hepatitis B virus, hepatitis C virus and HIV;
2. Patients with liver fibrosis and cirrhosis caused by other causes;
3. Patients with alcoholic liver disease and autoimmune liver disease;
4. Liver malignancy has been suggested or confirmed by evidence;
5. Combined with other serious systemic diseases.

Trial design

480 participants in 5 patient groups

hyperbilirubinemia

Description:

Gilbert syndrome Crigler-Najjar syndrome Dubin-Johnson syndrome Rotor syndrome PFIC BIRC

Treatment:

Other: There is no intervention

Wilson disease

Description:

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.

Treatment:

Other: There is no intervention

Hemochromatosis

Description:

① 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; ② 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.

Treatment:

Other: There is no intervention

Glycogen accumulation disease

Description:

According to different types, there may be the following manifestations, which need specific analysis. ① Clinical manifestations of abdominal distension, fasting hypoglycemia and other symptoms; ② Laboratory examination showed metabolic acidosis, hyperlactic acidemia, hyperuricemia and hyperlipidemia; ③ Abdominal CT showed enlarged liver volume; ④ Serum glucosidase activity decreased; (5) the GAA/G6PC/SLC374A/AGL/PYG/PHK gene mutations.

Treatment:

Other: There is no intervention

Other types of inherited metabolic liver disease

Treatment:

Other: There is no intervention