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Au–Kline Syndrome
Okamoto syndrome (OS), also known as Au–Kline syndrome (AKS), is a very rare autosomal dominant genetic condition characterised by congenital hydronephrosis, low muscle tone, heart defects, intellectual disability and characteristic facial features. Those affected often have neurological and skeletal abnormalities, as well as frequent urinary tract infections. Language and walking are usually delayed. Facial features include prominent, Low-set ears, downturned ears, an open, downturned mouth and drooping eyelids (Ptosis (eyelid), ptosis). The syndrome is caused by mutations in the ''HNRNPK'' gene, which codes for heterogeneous nuclear ribonucleoprotein K. This protein is involved in the process of DNA transcription and Translation (biology), translation into proteins. A mutation in this gene impairs DNA transcription, disrupting some developmental processes. As an autosomal dominant disorder, only one faulty copy of the gene is required for the condition to occur. The syndro ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Hydronephrosis
Hydronephrosis describes hydrostatic dilation of the renal pelvis and calyces as a result of obstruction to urine flow downstream. Alternatively, hydroureter describes the dilation of the ureter, and hydronephroureter describes the dilation of the entire upper urinary tract (both the renal pelvicalyceal system and the ureter). Signs and symptoms The signs and symptoms of hydronephrosis depend upon whether the obstruction is acute or chronic, partial or complete, unilateral or bilateral. Hydronephrosis that occurs acutely with sudden onset (as caused by a kidney stone) can cause intense pain in the flank area (between the hips and ribs) known as a renal colic. Historically, this type of pain has been described as "Dietl's crisis". Conversely, hydronephrosis that develops gradually over time will generally cause either a dull discomfort or no pain. Nausea and vomiting may also occur. An obstruction that occurs at the urethra or bladder outlet can cause pain and pressure result ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
