Cystinosis

Description:

Cystinosis — the hereditary disease caused by primary disturbance of exchange of cystine with adjournment of its crystals in bodies and fabrics, including kidneys, leading to development of a heavy nephropathy with a secondary tubulointerstitsialny syndrome and a picture of B-resistant rickets.

Cystinosis symptoms:

Children of early age are ill a cystinosis generally. Distinguish acute and chronic forms. At the first the disease clearly is shown in the second half of the year, at the second — after 2 years.

The most characteristic symptoms of an acute form are the small appetite, a growth inhibition, tendency to developing of toxicosis at stratification of an infection, frequent vomitings, locks, a polyuria, a polydipsia, rises in temperature. Often there is a tsistinovy retinopathy, photophobia appears. Quickly canalicular insufficiency with falling of concentration function of kidneys progresses.

At a chronic form of a disease symptoms are expressed to a lesser extent. Lag of physical development takes place. At both forms the picture of a rakhitopodobny syndrome, resistant to vitamin B meets.

Cystinosis reasons:

The cystinosis develops in a consequence of insufficiency of the enzyme cystine-reductase recovering cystine in cysteine. In this regard there is an accumulation of cystine in various bodies which easily crystallizes.

At the same time it is observed as out of - and intracellular adjournment of cystine, is preferential in reticulohistocytosis cells, and also in a cornea, marrow. In kidneys accumulation of cystine in an interstitium and cells of a proximal tubule takes place, processes of a reabsorption are as a result broken.

Treatment of the Cystinosis:

At treatment it is necessary to limit the use with food of the proteinaceous products rich with sulfur-containing amino acids (cottage cheese, eggs, fish). Purpose of high doses of vitamin B  cycles in 2 — 4 weeks under control of indicators of phosphorus-calcium exchange together with drugs of calcium and potassium practices. At development of a renal failure — the corresponding correction of the coming frustration of a homeostasis.