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Giltzurrun-medularreko gaixotasun kistikoa giltzurruneko fibrosia da, likidoz betetako barrunbeen sorrera, gehiegizko gernu-produkzioa eta sodio-galera eragin ditzakeen gaixotasuna. Diagnostikatzeko zaila da, batez ere gaixotasun arraroa delako.
, Medullary cystic kidney disease (MCKD) is … Medullary cystic kidney disease (MCKD) is an autosomal dominant kidney disorder characterized by tubulointerstitial sclerosis leading to end-stage renal disease. Because the presence of cysts is neither an early nor a typical diagnostic feature of the disease, and because at least 4 different gene mutations may give rise to the condition, the name autosomal dominant tubulointerstitial kidney disease (ADTKD) has been proposed, to be appended with the underlying genetic variant for a particular individual. Importantly, if cysts are found in the medullary collecting ducts they can result in a shrunken kidney, unlike that of polycystic kidney disease. There are two known forms of medullary cystic kidney disease, mucin-1 kidney disease 1 (MKD1) and mucin-2 kidney disease/uromodulin kidney disease (MKD2). A third form of the disease occurs due to mutations in the gene encoding renin (ADTKD-REN), and has formerly been known as familial juvenile hyperuricemic nephropathy type 2.juvenile hyperuricemic nephropathy type 2.
, داء الكلية اللبي الكيسي (بالإنجليزية: Medu … داء الكلية اللبي الكيسي (بالإنجليزية: Medullary cystic kidney disease أو MCKD) هو مرض كلوي وراثي سائد يمتاز بتصلب أنابيب الكلية مما يؤدي إلى المرحلة النهائية من مرض الكلى. الأبحاث الحديثة وجدت أن التكيسات ليس لها دور في المرض، لذلك يقترح تسمية المرض بداء الكلية اللبي ليكون أدق. ومن المهم الملاحظة أن وجود التكيسات قد تؤدي إلى انكماش الكلية بخلاف داء الكلية متعددة الكيسات. هنالك نوعان من داء الكلية اللبي الكيسي هما النوع الأول (MKD1) والنوع الثاني (MKD2).ا النوع الأول (MKD1) والنوع الثاني (MKD2).
, Die medullär-zystische Nierenerkrankung Ty … Die medullär-zystische Nierenerkrankung Typ 1, auch als MCKD1 oder ADMCKD1 (autosomal dominant medullary cystic kidney disease type 1) oder autosomal-dominante Nephronophthise bezeichnet, ist eine sehr seltene ernsthafte genetisch bedingte Erkrankung der Nieren. Die Krankheit ist eine autosomal-dominante Form einer tubulointerstitiellen Nephropathie. Die MCKD1 führt zu Zystennieren an der kortikomedullären Grenze der Nieren. Die Erkrankung bricht erst im erwachsenen Alter aus und führt im Durchschnitt in der sechsten Lebensdekade bei den Betroffenen zum terminalen Nierenversagen.Betroffenen zum terminalen Nierenversagen.
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Medullary cystic kidney disease has an autosomal dominant pattern of inheritance
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Medullary cystic kidney disease (MCKD) is … Medullary cystic kidney disease (MCKD) is an autosomal dominant kidney disorder characterized by tubulointerstitial sclerosis leading to end-stage renal disease. Because the presence of cysts is neither an early nor a typical diagnostic feature of the disease, and because at least 4 different gene mutations may give rise to the condition, the name autosomal dominant tubulointerstitial kidney disease (ADTKD) has been proposed, to be appended with the underlying genetic variant for a particular individual. Importantly, if cysts are found in the medullary collecting ducts they can result in a shrunken kidney, unlike that of polycystic kidney disease. There are two known forms of medullary cystic kidney disease, mucin-1 kidney disease 1 (MKD1) and mucin-2 kidney disease/uromodulin kidney disean-2 kidney disease/uromodulin kidney disea
, داء الكلية اللبي الكيسي (بالإنجليزية: Medu … داء الكلية اللبي الكيسي (بالإنجليزية: Medullary cystic kidney disease أو MCKD) هو مرض كلوي وراثي سائد يمتاز بتصلب أنابيب الكلية مما يؤدي إلى المرحلة النهائية من مرض الكلى. الأبحاث الحديثة وجدت أن التكيسات ليس لها دور في المرض، لذلك يقترح تسمية المرض بداء الكلية اللبي ليكون أدق. ومن المهم الملاحظة أن وجود التكيسات قد تؤدي إلى انكماش الكلية بخلاف داء الكلية متعددة الكيسات. هنالك نوعان من داء الكلية اللبي الكيسي هما النوع الأول (MKD1) والنوع الثاني (MKD2).ا النوع الأول (MKD1) والنوع الثاني (MKD2).
, Giltzurrun-medularreko gaixotasun kistikoa giltzurruneko fibrosia da, likidoz betetako barrunbeen sorrera, gehiegizko gernu-produkzioa eta sodio-galera eragin ditzakeen gaixotasuna. Diagnostikatzeko zaila da, batez ere gaixotasun arraroa delako.
, Die medullär-zystische Nierenerkrankung Ty … Die medullär-zystische Nierenerkrankung Typ 1, auch als MCKD1 oder ADMCKD1 (autosomal dominant medullary cystic kidney disease type 1) oder autosomal-dominante Nephronophthise bezeichnet, ist eine sehr seltene ernsthafte genetisch bedingte Erkrankung der Nieren. Die Krankheit ist eine autosomal-dominante Form einer tubulointerstitiellen Nephropathie. Die MCKD1 führt zu Zystennieren an der kortikomedullären Grenze der Nieren. Die Erkrankung bricht erst im erwachsenen Alter aus und führt im Durchschnitt in der sechsten Lebensdekade bei den Betroffenen zum terminalen Nierenversagen.Betroffenen zum terminalen Nierenversagen.
|
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Medullär-zystische Nierenerkrankung Typ 1
, Medullary cystic kidney disease
, داء الكلية اللبي الكيسي
, Giltzurrun-medularreko gaixotasun kistiko
|
