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

蔡政道(Jeng-Daw Tsai) ； 林炫沛(Shuan-Pei Lin) ； 黃富源(Fu-Yuan Huang) ； 許輝吉(Hey-Chi Hsu) ； 蔡淳娟(Tsuen-Chiuan Tsai)

《Acta Paediatrica Sinica》 38卷2期 (1997/04) Pp. 116-120

https://doi.org/10.7097/APS.199704.0116

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回音增強、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理象，腎功能並有持續惡化理象。因而診斷爲幼年性腎消耗病-腎髓質囊腫疾病複合體(JN-MCD comples)。我們因此而篩檢出此父系家族中共八個JN-MCD comples病患，其中三人有持續腎功能惡化，其中五人綿可找到腎小囊。我們因此總結：病發時的看似並不能區分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；腎小管其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、生長遲滯的理象，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，遺傳咨詢是非常重要的。

關鍵字

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 ； 遺傳咨詢

並列摘要

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. UItrasonography revealed increased renal echo genicity, 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 pro gressively 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 considered a clinical 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.

並列關鍵字

juvenile nephronophthisis-medullary cystic disease complex ； corticomedullary cysts ； tubular basement membrane ； renal tubular dysfunction ； genetic counseling