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متلازمة إيست متلازمة مرضية تشمل الأعراض ال … متلازمة إيست متلازمة مرضية تشمل الأعراض التالية: صرع، رنح، صمم حسي عصبي (صمم ناتج عن خلل في العصب السمعي)، اعتلال كلوي أنبوبي. يؤهب الاعتلال الكلوي الأنبوبي (تشوه في الأنابيب الكلوية) في هذه المتلازمة لنقص بوتاسيوم الدم (انخفاض البوتاسيوم) وقلاء استقلابي مع ضغط دم طبيعي، وقد يحدث أيضًا نقص مغنزيوم الدم. تُعرف متلازمة إيست أيضًا باسم متلازمة سيسامي باعتبارها تشمل: صرع، صمم حسي عصبي، رنح، إعاقة ذهنية (تخلف عقلي)، اضطراب في توازن الشوارد. ينتج اضطراب الشوارد هذا عن خلل وراثي متنحي في الجين KCNJ10، كما أوضح ذلك بوكنهاور وزملاؤه. يتحكم هذا الجين بعبور البوتاسيوم عبر الغشاء الخلوي، ويؤثر على الدماغ والأذن والكلية.ء الخلوي، ويؤثر على الدماغ والأذن والكلية.
, EAST syndrome is a syndrome consisting of … EAST syndrome is a syndrome consisting of epilepsy, ataxia (a movement disorder), sensorineural deafness (deafness because of problems with the hearing nerve) and salt-wasting renal tubulopathy (salt loss caused by kidney problems). The tubulopathy (renal tubule abnormalities) in this condition predispose to hypokalemic (low potassium) metabolic alkalosis with normal blood pressure. Hypomagnesemia (low blood levels of magnesium) may also be present. EAST syndrome is also called SeSAME syndrome, as a syndrome of seizures, sensorineural deafness, ataxia, intellectual disability (mental retardation), and electrolyte imbalances. It is an autosomal recessive genetic disorder caused by mutations in the KCNJ10 gene, as discovered by Bockenhauer and co-workers. The KCNJ10 gene encodes the K+ channel Kir4.1 (allowing K+ to flow into a cell rather than out) and is present in the brain, ear, and kidney. is present in the brain, ear, and kidney.
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متلازمة إيست متلازمة مرضية تشمل الأعراض ال … متلازمة إيست متلازمة مرضية تشمل الأعراض التالية: صرع، رنح، صمم حسي عصبي (صمم ناتج عن خلل في العصب السمعي)، اعتلال كلوي أنبوبي. يؤهب الاعتلال الكلوي الأنبوبي (تشوه في الأنابيب الكلوية) في هذه المتلازمة لنقص بوتاسيوم الدم (انخفاض البوتاسيوم) وقلاء استقلابي مع ضغط دم طبيعي، وقد يحدث أيضًا نقص مغنزيوم الدم.دم طبيعي، وقد يحدث أيضًا نقص مغنزيوم الدم.
, EAST syndrome is a syndrome consisting of … EAST syndrome is a syndrome consisting of epilepsy, ataxia (a movement disorder), sensorineural deafness (deafness because of problems with the hearing nerve) and salt-wasting renal tubulopathy (salt loss caused by kidney problems). The tubulopathy (renal tubule abnormalities) in this condition predispose to hypokalemic (low potassium) metabolic alkalosis with normal blood pressure. Hypomagnesemia (low blood levels of magnesium) may also be present. levels of magnesium) may also be present.
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EAST syndrome
, متلازمة إيست
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