Primary hyperoxaluria ( oxalosis )

August 12, 2017 17:51 | Genetic Diseases

Primary hyperoxaluria is a hereditary metabolic abnormalities, which is characterized by periodic exacerbations, calcium oxalate nephrolithiasis (kidney stones), gradually leading to chronic renal failure.

Symptoms of the disease first detected in early childhood - hematuria (blood in urine), leucocyturia (appearance of white blood cells in the urine), kidney colic.On radiographs of the abdomen revealed dense multiple calculi (stones) in the kidney.In some cases, first appears oxalosis delay child growth and signs of uremia (this is the last stage of kidney failure), renal tubular acidosis (a violation of the acid-base balance in the body as a result of renal dysfunction).In another part of the people suffering from this disease, primary hyperoxaluria (in the urine large amounts of oxalate - oxalic acid salt) was manifested only in adulthood in the form of kidney failure.When the kidneys are the main organs oxaluria target, t. E. Organs susceptible to pathological changes.

Renal involvement in oxalos

is manifested mainly by changes in the urine (the protein, the emergence of a small amount of red blood cells, white blood cells).The general condition of the child, however, remains satisfactory.Sometimes the recorded pain, enuresis (bedwetting).The occurrence of these symptoms is due to the fact that crystals of oxalate are irritating to the urinary tract.Bacteriuria (bacteria in the urine) is usually absent, kidney function tests did not reveal abnormalities.Exercise testing (water, salt, ammonium chloride load) can detect failure of kidney function.Long term damaging effects of crystals can lead to inflammatory changes in the urinary tract and kidney (interstitial nephritis).This creates the conditions for starting an inflammatory reaction abacterial first, and subsequently - a laminating microbial infection.The general condition of the child when it deteriorates, there may be "inexplicable" body temperature (not above 38 ° C), pain, disorders dizuricheskie (change in frequency of urination, urine volume and quality), reduced kidney concentrating ability.With the progression of the disease likely to develop pyelonephritis and nephrolithiasis.

rate of renal disease among relatives of I degree relatives in families with hyperoxaluria is 34.2%.

calcium oxalates - the main component of kidney stones in almost 75% of cases of nephrolithiasis.However, most individuals with recurrent disease hyperoxaluria type of flow can not be detected.They may be significant fluctuations in the content of oxalic acid in the urine during the day.At the same time, the urine of healthy humans usually supersaturated calcium and oxalate ions, which explains the significant formation rate of their kidney stones.

basis oxalate diathesis treatment is a rational diet, reducing the functional load on the kidneys.A potato-cabbage diet, which provides for the exclusion from the diet of a sick person extractive rich meat dishes, oksalogennyh foods such as leafy vegetables (sorrel, lettuce, spinach), tea, cocoa, chocolate, cranberries, carrots, beets.Recommended "fresh" fruit - pear, prunes, dried apricots.

Application iprazida causes decreased excretion of oxalate in the urine.Justified use of allopurinol, for the application of which is to reduce the intensity of excretion by the kidneys of uric acid, which can promote the crystallization of calcium oxalate and the formation of kidney stones.Widely used combined use of pyridoxine and magnesium oxide.The effectiveness of pyridoxine only observed in some people with the disease.A positive result is observed when using ksidifon inside, which increases the solubility of calcium salts, inhibit the growth of crystals of sodium citrate.