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題名 | Juvenile Nephronophthisis-Medullary Cystic Disease Complex: A Family Study=幼年性腎消耗病-腎髓質囊腫疾病複合體:一家族的研究 |
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作者 | 蔡政道; 林炫沛; 黃富源; 許輝吉; 蔡淳娟; | 書刊名 | 中華民國小兒科醫學會雜誌 |
卷期 | 38:2 民86.03-04 |
頁次 | 頁116-120+168 |
分類號 | 417.574 |
關鍵詞 | 幼年性腎消耗病-腎髓質囊腫疾病複合體; 皮質髓質交接處小囊; 腎小管基底膜增厚; 腎小管功能異常; 遺傳諮詢; Juvenile nephronophthisis-medullary cystic disease complex; Corticomedullary cysts; Tubular basement membrane; Renal tubular dysfunction; Genetic counseling; |
語文 | 英文(English) |
中文摘要 | 二位八歲與六歲姐妹因生長遲緩、多尿與夜尿症於1993年入院,住院期間檢查出 有尿濃縮不良、鈉離子流失、貧血、腎功能不佳。超音波顯示雙側腎實質迴音增強、皮質髓 質處分化不清、與多個小囊於皮質髓質交接處。病理顯示腎小管基底膜處有程度不等的增厚 現象,腎功能並有持續惡化現象。 因而診斷為幼年性腎消耗病 - 腎髓質囊腫疾病複合體( JN-MCD complex )。我們因此而篩檢出此父系家族中共八個 JN-MCD complex )。 我們因 此而篩檢出此父系家族中共八個 JN-MCD complex 病患,其中三人有持續腎功能惡化,其中 五人皆可找到腎小囊。 我們因此總結: 病發時的年紀並不能區分 MCD 與 JN, 我們同意 JN-MCD complex 的名稱;超音波上看不到腎小囊並不能排除其可能性; 腎小管基底膜增厚 雖然是非特異的,但是卻是其早期最明顯的病理變化。任何孩童自小有多尿、多渴、貧血、 生長遲滯的現象,雖然其尿液檢查正常,都應小心檢查並追蹤其腎小管功能與超音波。早期 診斷與治療可改善其臨床病程。對於有家族性病史的病人,遺傳諮詢是非常重要的。 |
英文摘要 | Two sisters, eight and six years old, respectively, were admitted to Mackay Memorial Hospital in 1993 with the chief complaints of growth retardation, polyuria and nocturnal enuresis. Poor urinary concentration, sodium wasting, anemia and renal insufficiency were noted during hospitalization. Ultrasonography revealed increased renal echogenicity, loss of corticomedullary differentiation and mutiple tiny corticomedullary cysts in both kidneys. Renal histopathology showed mild increase in glomerular mesangial cellularity and matrix, mild focal tubular atrophy with thickening of the tubular basement membrane. Other family members were screened by ultrasonography and found another six patients in two generations of the paternal side. Renal cysts were found in five cases. Three of them had progressively deteriorating renal failure. Five had stable renal function after three years of supportive treatment. Thus, it was concluded that the age of onset does not differentiate medullary cystic disease (MCD) from juvenile nephonophthisis (JN), and that JN and MCD could be consider a clinicl complex. The absence of corticomedullary cysts on ultrasonography does not preclude the diagnosis. It is also suggested that any children with clinical symptoms of polyuria, polydipsia, anemia and growth retardation from their early years should be carefully examined, and the family history should be investigated to permit early detection of the disease. |
本系統之摘要資訊系依該期刊論文摘要之資訊為主。