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. Male sexual development is affected in utero. Females appear normal at birth but have delayed puberty.

Apparent mineralocorticoid excess (AME ) are autosomal recessieve form of laag-reninhypertensie, cause of hypertensie and hypokalaemia which answers to glucocorticoid treatment. The syndrome of apparent mineralocorticoid excess is a rare form of severe juvenile hypertension that is usually transmitted as an autosomal recessive trait. Patients with apparent mineralocorticoid excess have low or absent activity of the enzyme 11 beta OH steroid dehydrogenase, and inappropriately high intrarenal levels of cortisol resulting in Na+ retention and hypertension. Although apparent mineralocorticoid excess is presumed to reflect inappropriate cortisol occupancy of mineralocorticoid receptors, several features also suggest inappropriate occupancy of glucocorticoid receptors.

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Dent’s disease may also be associated with kaliuresis, phosphaturia, uricosuria.

Dent disease is a genetic kind of liberal renal bankruptcy. It is one reason of Fanconi syndrome, and is characterized by tubular proteinuria, hypercalciuria, calcium nephrolithiasis, nephrocalcinosis and chronic renal bankruptcy. Because of its rather rare occurrence, Dent’s disease is often diagnosed as idiopathic hypercalciuria, i.e. excess calcium in urine with undetermined causes. It is due to mutations that inactivate a voltage-gated chloride channel, named CLC-5, which is expressed in the kidney and is encoded by a gene at Xp11.22. The condition is familial, affecting both males and females in equal numbers, but males are more severely affected than females. In males, it tends to present in childhood or early adult life with symptoms of renal calculi, rickets or even with renal failure.

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. Male sexual development is affected in utero. Females appear normal at birth but have delayed puberty.

Apparent mineralocorticoid excess (AME ) are autosomal recessieve form of laag-reninhypertensie, cause of hypertensie and hypokalaemia which answers to glucocorticoid treatment. The syndrome of apparent mineralocorticoid excess is a rare form of severe juvenile hypertension that is usually transmitted as an autosomal recessive trait. Patients with apparent mineralocorticoid excess have low or absent activity of the enzyme 11 beta OH steroid dehydrogenase, and inappropriately high intrarenal levels of cortisol resulting in Na+ retention and hypertension. Although apparent mineralocorticoid excess is presumed to reflect inappropriate cortisol occupancy of mineralocorticoid receptors, several features also suggest inappropriate occupancy of glucocorticoid receptors.

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