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家族性少年肾单位肾病(familial juvenilenephronophthisis)为肾脏髓质囊性病之一型。为常染色体隐性遗传,临床罕见。现将我院遇到的一家2例报告如下。 例1,女,10(10/12)岁,因气喘6～7d入院。入院前1周开始腹泻,水样便10～15次/日,继而频发呕吐伴气喘。查体:T 36.9C,体重22kg,贫血貌,呼吸深快,心肺未闻异常。化验:Hb 60g/L,WBC12×10~9/L,N 0.72,L 0.28,血小板40×10~9/L,血
Familial juvenile nephrotic nephropathy (familial juvenilenephronophthisis) is a type of renal cystic disease. For autosomal recessive inheritance, clinical rare. Now I met a hospital two cases are as follows. Example 1, female, 10 (10/12) years of age, admitted to hospital for asthma 6 ~ 7d. One week before admission, diarrhea starts, water samples are 10 to 15 times a day, followed by frequent vomiting with asthma. Physical examination: T 36.9C, weight 22kg, anemic appearance, deep breathing, cardio-pulmonary anomalies. Laboratory: Hb 60g / L, WBC12 × 10 ~ 9 / L, N 0.72, L 0.28, platelets 40 × 10 ~ 9 / L, blood