PFIG-2 儿科英文病例.docx

Case(3) : progressive familial intrahepatic cholestasis Medical Number: 1003027882General informationName: xiao bojun Age: 2month17days Sex: male Race: HanOccupation：unemployed marital status: unmarried ID: UnknownNationality: ChinaAddress: guangchang Community, hanyang Road, caidian, wuhan, Hubei. Tel:istory of the presenter: Mother Hu jingyan Reliability: ReliableDate of admission: 2014-02-07 14:47 pm Date of record: 2014-02-07 16:45pmChief complaint: yellowing of the skin and eyes for 2 months.Present illness: The patient with manifestation of the yellowing of skin and Sclera the next day after the child was born. Not associated with fever 、vomit、diarrhea, Yellow stool, without White clay stools. Hospitalized Hubei maternal and child health care due to “respiratory distress syndrome of newborn ”、“Respiratory Failure”“ventilator-associatcd pneumonia”“bronchopulmonary dysplasia”“cholestatic syndrome”“anemia of prematurity”“very low birth weight infant”from 2013-11 to 2014-01-26. Respirator assisted ventilation for 7 days and continuous positive airway pressure( CPAP) assisted ventilation 33days while hospitalized. The chaild started anti-infective therapy(Meropenem 、Sulperazon), plasma transfusion, red cell transfusions, blue-ray radiation therapy, with these treatment the signs and symptom alleviate and leave hospital. Jaundice was significantly increased without any inducement visited Hubei maternal and child health care at 2014-02-03, Blood biochemical item : total bilirubin 206.6umol/L, conjugated bilirubin 130.4umol/L, indirect bilirubin 76.2umol/L, ALT 34.1 U/L, AST 132.6U/L, r-GT 72U/L, total bile acid 89.2umol/L, total protein 45g/L, albumin 37.1g/L, ALP 717U/L. Then the child visited our hospital clinic service, Hospitalized with “jaundice of unknown origin”.Since onset, both his spiritedness and physical energy ware normal ,but his appetite was not good, sleep normal , Defecation and urination are normal. physical strength and body weight no significant change.Past history 1、General health： The patient Hospitalized Hubei maternal and child health care due to “respiratory distress syndrome of newborn ”、“Respiratory Failure”“ventilator-associatcd pneumonia”“bronchopulmonary dysplasia”“cholestatic syndrome”“anemia of prematurity”“very low birth weight infant”from 2013-11 to 2014-01-26. 2、 History of infective diseases：none3、Allergy history of food and drugs：none4、History of use blood and blood products: plasma transfusion, red cell transfusion,5、surgery, trauma ： nonePersonal history1. Natal: forth Pregnancy and First birth born, premature delivery with birth weight 1.4 Kg. The state of mother at Pregnancy was good.2. Development: unable to raise head 、sit up 、 walk and speaking . Unerupted teeth . His intelligence was normal.3. Nutrition: he was mixed Feeding after birth. No complementary feeding .4. Immunization: without any vaccination5. Bad habit ：none Family history 1、 consanguineous marriage：no 2、family numbers of any similar disease ：no3、parents health status ：fine4、family numbers of communicable diseases: no5、family numbers of inherited metabolic disorders：nosocial history 1、endemic diseases and epidemic disease : no 2、Exposure of infectious diseases: no 3、family economics and living environment status ：finePhysical examination T 37.1, P 150/min, R40/min regularity , BP 105/80mmHg. body height：not examined ，body weight：4kg，head circumference：not examined.Skin Color stained yellow， Skin Rash none， subcutaneous hemorrhage none， Edema：none ， Superficial lymph nodes: non-swelling .Head Cranium: Hair was black and well distributed. No deformities. No scars. No masses. No tenderness. Bregmatic fontanel：1.5cm*1.5cm Ear: Bilateral auricles were symmetric and of no masses. No discharges were found in external auditory canals. No tenderness in mastoid area. Auditory acuity was normal. Nose: No abnormal discharges were found in vetibulum nasi. Septum nasi was in midline. No nares flaring. No tenderness in nasal sinuses. Eye: Bilateral eyelids were not swelling. No ptosis. No entropion. Conjunctiva was not congestive. Sclera was jaundice. Eyeballs were not projected or depressed. Movement was normal. Bilateral pupils were round and equal in size. Direct and indirect pupillary reactions to light were existent.Mouth: Oral mucous membrane was smooth, and there were ulcer cannot be seen. Tongue was in midline. Pharynx was congestive. Tonsils were not enlarged. Neck: Symmetric and of no deformities. No masses. Thyroid was not enlarged. Trachea was in midline.Chest Chestwall: Veins could not be seen easily. No subcutaneous emphysema. Intercostal space was neither narrowed nor widened. No tenderness. Thorax: Symmetric bilaterally. No deformities. Lungs: Respiratory movement was bilaterally symmetric. thoracic expansion and tactile fremitus were symmetric bilaterally. No pleural friction fremitus. Resonance was heard during percussion. No abnormal breath sound was heard. No wheezes. No rales. Heart: No bulge and no abnormal impulse or thrills in precordial area. The point of maximum impulse was in 5th left intercostal space inside of the mid clavicular line and not diffuse. No pericardial friction sound. Border of the heart was normal. Heart sounds were strong and no splitting. Rate 150/min. Cardiac rhythm was regular. No pathological murmurs.Abdomen: Flat and soft. No bulge or depression. No abdominal wall varicosis. Gastralintestinal type or peristalses were not seen. There was not tenderness and rebound tenderness on abdomen or renal region. Liver was touched 2cm under the right costal margin. Spleen was 1cm under the left. No masses. Fluidthrill negative. Shifting dullness negative. borborygmus 5/min. No vascular murmurs.Extremities: No articular swelling. Free movements of all limbs.Neural system: Physiological reflexes were existent without any pathological reflex Genitourinary system: Not examed.Rectum: not exanedexamination results in other hospital or clinic service ：Hubei maternal and child health care：1、2013-11-08: conjugated bilirubin 11.7umol/L, indirect bilirubin 21.9umol/L, ALT 10 U/L, AST 27.9U/L, r-GT 447U/L, total protein 40.2g/L, albumin 29.9g/L, ALP 684 U/L2、2014-01-20: conjugated bilirubin 113.7umol/L, indirect bilirubin 51.5umol/L, r-GT 70U/L，ALT18.9 U/L, AST 77U/L。3、2014-01-23 MRI of liver and gall ：liver and gall sparseness，common bile duct and gallbladder unable to developing .History summary1. Patient was male, 2month17days 2. Chief complaint: yellowing of the skin and eyes for 2 months.3、G4P1, 28+w, BW 1.4kg, Hospitalized Hubei maternal and child health care due to “respiratory distress syndrome of newborn ”、“Respiratory Failure”“ventilator-associatcd pneumonia”“bronchopulmonary dysplasia”“cholestatic syndrome”“anemia of prematurity”“very low birth weight infant”from 2013-11 to 2014-01-26. Plasma transfusion, red cell transfusion. Allergy history negative. 4、Physical examination: T 37.1, P 150/min, R40/min regularity , BP 105/80mmHg. body weight：4kg， Skin and Sclera stained yellow. Without Skin Rash or subcutaneous hemorrhage. Superficial lymph nodes were not found enlarged. Bregmatic fontanel：1.5cm*1.5cm , soft. Pharynx was congestive a little. No abnormal breath sound was heard. No wheezes. No rales. Heart sounds were strong and no splitting. Rate 150/min. Cardiac rhythm was regular. No pathological murmurs. Abdomen flat and soft. Liver was touched 2cm under the right costal margin. Spleen was 1cm under the left. No masses. Extremities are normal. Physiological reflexes were existent without any pathological reflex.5、investigation information: Hubei maternal and child health care：1、2013-11-08: conjugated bilirubin 11.7umol/L, indirect bilirubin 21.9umol/L, ALT 10 U/L, AST 27.9U/L, r-GT 447U/L, total protein 40.2g/L, albumin 29.9g/L, ALP 684 U/L2、2014-01-20: conjugated bilirubin 113.7umol/L, indirect bilirubin 51.5umol/L, r-GT 70U/L，ALT18.9 U/L, AST 77U/L。3、2014-01-23 MRI of liver and gall ：liver and gall sparseness，common bile duct and gallbladder unable to developing .Admission diagnosis： infantile hepatitis syndrome Signature: Luo fei2014-02-08Part of examination results1、blood routine examination （7/2）：WBC 13.6*109/L，N 37.5%，L51.7%，PLT 641*109/L，RBC 3.94*1012/L，HB 108g/L.2、Blood coagulation function：prothrombin time PT 16.2s ， PTA 66.0 %，APTT 62.2S .3、AFP ：80000 ng/ml 4、Liver function test ： 4 timesItem2014.02.072014.02.112014.02.152014.02.24ALT U/L37324149AST U/L120 919991total protein g/L47.753.956.957.8Albumin g/L38.440.042.240.3total bilirubin umol/L202.4 139.4129.7120.1conjugated bilirubin umol/L128.1102.099.798.7ALP U/L1003772665490r-GT U/L71585051total bile acids umol/L136.264.989.877.75-nucleotidase U/L2.72.01.62.1a-L-Fucosidase U/L91 8274805、 progressive familial intrahepatic cholestasis (PFIG-2) gene test：The child and the patient (both father and mother ) ABCB11gene 13th exons 1331TC mutation，lead to Amino Acid V444A change. Final clinical diagnosisProgressive familial intrahepatic cholestasis（II type）Some information about PFICProgressive familial intrahepatic cholestasis (PFIC) refers to a group of familial cholestatic conditions caused by defects in biliary epithelial transporters. The clinical presentation usually occurs first in childhood with progressive cholestasis. This usually leads to failure to thrive, hepatic failure, and the need for liver transplantation.Pathogenesis： There are three known types of PFIC: PFIC1, PFIC2, and PFIC3. PFIC-1 is caused by a variety of mutations in ATP8B1, PFIC-2 is caused by a variety of mutations in ABCB11, PFIC-3 is caused by a variety of mutations in ABCB4.Clinical presentation and diagnose Patients usually present in early childhood with cholestasis, jaundice, and failure to thrive. Intense pruritus is characteristic; in patients who present in adolescence, it has been linked with suicide. Patients may have fat malabsorption, leading to fat soluble vitamin deficiency, and complications, including osteopenia.Biochemical markers include a normal GGT for PFIC-1 and -2, with a markedly elevated GGT for PFIC-3. Serum bile acid levels are grossly elevated. Serum cholesterol levels are typically not elevated, as is seen usually in cholestasis, as the pathology is due to a transporter as opposed to an anatomical problem with biliary cells. Liver biopsies typica