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The results carry a clear key message: good treatment is important! Patients in whom acidosis had been adequately controlled with adequate treatment had better growth and renal function than those whose treatment was inadequate.
In addition to regulating the body's water balance, by excreting larger or smaller amounts of urine, the kidneys also maintain the proper balance of electrolytes (salts) and pH (acid-base balance). ) in our body. The excess of acid is secreted in the urine by healthy kidneys. This process takes place in a specific part of the kidney ("distal tubules"). When this excretion of acid is disrupted, the concentration of acid in the body increases, a disorder called distal renal tubular acidosis (dRTA). "Too much acid in our body has a lot of negative effects," says Professor Dr. Detlef Bockenhauer, of London. "In the first case, the acid dissolves the bones, resulting in complications such as rickets. And the calcium released by the bone is found in the urine, where it can cause kidney stones.
Distal renal tubular acidosis is a rare disease (affecting only about 1 100 000 people) and is conbad in most cases (also known as familial or primitive tRNA). Mutations in six genes have been identified, which can cause disorder. Symptoms may include large amounts of urine, thirst, fatigue, growth disorders and developmental delay, bone lesions (similar to rickets or osteoporosis) or kidney stones . Recurrent kidney stones or severe calcification of renal tissue (nephrocalcinosis) may lead to progressive chronic renal failure. A marked deficiency of serum potbadium may be another complication that can lead to paralysis, cardiac arrhythmia and ultimately death. Some inherited forms also lead to progressive deafness. The symptoms can vary considerably for different gene mutations, with some patients remaining asymptomatic and the diagnosis made by chance.
The treatment implies that patients must take daily alkaline supplements (acidic binders such as bicarbonate or citrate) throughout their lives.
"Because of the rarity of the disease, there are no long-term studies on its progression and prognosis, which makes it more difficult to manage the patient's medical management and to provide adequate information to parents and patients," explains Professor Bockenhauer. . That's why the goal of a multinational initiative launched as part of ERKNet (European Reference Network for Rare Kidney Failures), in cooperation with the Working Group on Hereditary Diseases of the European Renal Association, the European Dialysis and Graft Association (ERA-EDTA) and the European Society of Pediatric Nephrology (ESPN) Hereditary Renal Disorders Working Group were to clarify a a number of unresolved issues to improve the diagnosis, treatment and treatment of the disease for physicians, patients and parents. Pediatric and adult nephrologists were contacted for the study [1]and all available data (demographic, biochemical, genetic and clinical) were collected using online forms.
The results of the study have now been published. Data on 340 patients from 29 countries were collected (52% women). The median age of the patients was 11 years (0 to 70 years), of whom 83 patients (24%) were adults (approximately 18 years old). The median age of presentation was 0.5 years (range 0-54 years) and 11 years at the last follow-up (0-70 years). Mutation badyzes were performed in 206 patients (61%); gene mutations were identified in 170 individuals in this group (83%). Adult patients had slightly below average heights (with a SDS of -0.57). The prevalence of stage 2 chronic renal failure was 35% in children and 82% in adults. Calcification of renal tissue (nephrocalcinosis) was reported in 88% of patients. Kidney stones (nephrolithiasis) were more common in SLC4A1 mutations (42% versus 21%). 36% had hearing loss (most often in cases of ATP6V1B1 mutations). Adequate treatment with normal acid-base balance and no excessive loss of urinary calcium was achieved in only 158 patients (51%), mainly in countries with high gross domestic product. Importantly, when badyzing data from adult patients, the researchers found that those receiving adequate treatment had better final size and better kidney function, compared to those for whom an adequate buffer of acid was not obtained. "This is an important message for all the clinicians who care for these patients: we really need to make sure we are managing the disease as effectively as possible so that our patients can reach their full growth potential and maintain overall kidney function! "
"Overall, the evolution and results of distal renal tubular acidosis in this vast cohort of patients can be considered favorable," summarizes Professor Bockenhauer. "Most patients reach an adult size in the normal range and no patient suffers from severe chronic renal failure (chronic renal failure) or dialysis necessary." Nevertheless – 82% of patients reached stage 2-4 nephropathy this is probably due to the fact that the optimal management of the acid-base balance has been achieved by only about half of the patients.The future efforts must now focus on the establishment of the best treatment. possible treatment for all patients in all countries. "
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