Lowe's syndrome
Contents:
Description:
Lowe's syndrome (okulo-tserebro-renal syndrome) the genetic pathology of the person relating to group of tsiliopatiya. It is characterized by considerable anomalies of eyes, a brain, kidneys.
Symptoms of the Syndrome of Lowe:
In typical cases it is shown by the cataract forming in the early childhood, glaucoma, hypotonia, a hyporeflexia, a delay of intellectual development and various renal disturbances including an incomplete reabsorption of bicarbonates, renal tubular acidosis, Fankoni's syndrome and a chronic renal failure. Also skeletal anomalies, including an osteoarthritis, a kyphosis, scoliosis, a mnozhstvenny arthropathy can be observed.
Reasons of the Syndrome of Lowe:
The reason of a syndrome of Lowe - the inborn insufficiency of фосфатидилинозитол-4,5-бифосфат-5-фосфатазы enzyme caused a nonsense - or stop mutations in OCRL gene. The gene is mapped on a long shoulder of X-chromosome (Hq25-q26) and contains 24 exons borrowing 58kda. As a result insufficiency фосфатидилинозитол-4,5-бифосфат-5-фосфата, being critical metabolite involved in vesicular transport in Golgi's complex develops. It is possible that the shortcoming фосфатидилинозитол-4,5-бифосфат-5-фосфата can influence an octynic cytoskeleton and further formation and maintenance of intercellular interactions. Renal tubular acidosis causes the osteoporosis attributed to compensatory release of alkalis and calcium from bones to neutralize protons. Chronic renal loss of bicarbonates at patients with disturbances of metabolism of an inoiztolfosfat can be the cause of a hyper parathyroidism. The diagnosis of a syndrome of Lowe can be compatible to normal intelligence and big life expectancy of patients.
Treatment of the Syndrome of Lowe:
Timely appointed diet with restriction of table salt and a galactose, therapy of a syndrome of Fankoni and rickets improve a condition of patients. Besides correction of a metabolic acidosis is necessary.
