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Can you solve this riddle ?

Discussion in 'Spot Diagnosis' started by neo_star, Feb 6, 2013.

  1. neo_star

    neo_star Moderator

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  2. neo_star

    neo_star Moderator

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    hint : the key to the riddle is in the middle of the kidney
     

  3. neo_star

    neo_star Moderator

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    Answer : Liddle's syndrome

    Discussion

    This syndrome is caused by dysregulation (due to genetic mutation) of an epithelial sodium channel (ENaC) found at the surface of certain cells called epithelial cells found in the kidneys, lungs, and sweat glands. The ENaC channel transports sodium into cells. The mutation changes a domain in the channel so it is no longer degraded correctly by the ubiquitin proteasome system causing increased activity of this channel leading to increased sodium reabsorption which leads to hypertension due to an increase in extracellular volume.

    Evaluation of the pediatric hypertensive patient usually involves analysis of blood electrolytes and an aldosterone level, as well as other tests. In Liddle's disease, the serum sodium is typically elevated, the serum potassium is reduced,[SUP][/SUP]and the serum bicarbonate is elevated. These findings are also found in hyperaldosteronism, another rare cause of pediatric hypertension. Primary hyperaldosteronism (also known as Conn's syndrome), is due to an aldosterone-secreting adrenal tumor (adenoma) or adrenal hyperplasia. Aldosterone levels are high in hyperaldosteronism, whereas they are low to normal in Liddle syndrome.


    ref - Liddle's syndrome - Wikipedia, the free encyclopedia
     

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