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1、Case(3) : progressive familial intrahepatic cholestasisMedical 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. T
2、el: 13871107167History 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 th
3、e 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 dyspl
4、asia”“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 、S
5、ulperazon), 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 :
6、 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 unkn
7、own 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 history1、General health： The patient Hospitalized Hubei maternal and child h
8、ealth 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 histo
9、ry 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: un
10、able 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 history1、 consanguineous marriage：no2、family numbers of any similar
11、disease ： no3、parents health status ：fine4、family numbers of communicable diseases: no5、family numbers of inherited metabolic disorders：nosocial history1、endemic diseases and epidemic disease : no2、Exposure of infectious diseases: no3、family economics and living environment status ：finePhysical exam
12、inationT 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 .HeadCranium: Hair was black and well d
13、istributed. No deformities. No scars. No masses. No tenderness. Bregmatic fontanel：1.5cm*1.5cmEar: 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 fo
14、und 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
15、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. Thyroi
16、d was not enlarged. Trachea was in midline.ChestChestwall: 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.
