Pediatric Barth syndrome
Introduction
Introduction to Pestle's syndrome in children Children's Barth Syndrome, also known as Bartter-Gietlman syndrome, Bartter syndrome, Battlell syndrome, heterotopic secondary aldosteronism syndrome, secondary aldosteronism syndrome, juxtaglomerular hyperplasia syndrome, glomerular Cell hyperplasia, renal tubular alkalosis, congenital hypokalemia, congenital hyperaldosteronism, diffuse juxtaglomerular cell hyperplasia, Bart's syndrome, normotensive aldosteronism syndrome. basic knowledge Probability ratio: Susceptible people: infants and young children Mode of infection: non-infectious Complications: orthostatic hypotension, convulsions in children, renal failure
Cause
The cause of pediatric Barth Syndrome
Genetic factors (65%):
The etiology of this disease is still inconclusive, and most scholars believe that it is an autosomal recessive hereditary disease. There have been reports of 5 out of 9 compatriots and 4 cases of 2 consecutive generations. Modern molecular biology techniques have also revealed that Bartter syndrome is caused by mutations in the ion transporter gene on renal tubular epithelial cells.
Pathogenesis:
The pathogenesis of Barth syndrome has not been fully elucidated. Some people have proposed four hypotheses about the pathogenesis of this syndrome:
1. Defects in the response of the vessel wall to ATI lead to increased renin production and secondary aldosterone increase.
2. The proximal small tube sodium reabsorption disorder leads to a negative sodium balance; the low sodium diet can not reverse the renal potassium loss.
3. Excessive production of prostaglandins causes loss of sodium in the renal tubules and reduction of blood sodium to activate the renin-angiotensin system.
4. The thick wall segment of the medullary palpebral pallidus has a barrier to chloride translocation, which reduces chloride reabsorption, and increased potassium excretion leads to hypokalemia; hypokalemia stimulates the production of prostaglandin E2 and makes plasma renin activating kidney Activity and angiotensin I are elevated. After prostaglandin E2 elevation, the blood vessels are not sensitive to ATI and the blood pressure is normal.
Prevention
Pediatric Bart Syndrome Prevention
Because the cause of the disease is still inconclusive, there is no definite preventive measures, mainly to prevent chronic nephritis, interstitial nephritis, pyelonephritis and other diseases, enhance physical fitness, improve immunity, and improve the understanding of the disease, early diagnosis, early treatment, to Prevent complications.
Complication
Complications of Pebs syndrome in children Complications, orthostatic hypotension, convulsions, renal failure
Can be complicated by hypokalemia, orthostatic hypotension, mental retardation, convulsions, gout, rickets, renal calcification, progressive renal failure and so on.
Symptom
Pediatric Bart Syndrome Symptoms Common symptoms Hypokalemia, hypokalemia, polyurea, metabolic alkalosis, enuresis, hypotension, weight loss, calcification, auricle, prominent weakness
The clinical manifestations of this disease are complex and diverse, with hypokalemia. The Bartter syndrome in the fetus is characterized by intermittent episodes of polyuria. The amniotic fluid occurs in 22-24 weeks of pregnancy. Recurrent amniotic fluid is needed to prevent premature birth. Children The most common symptoms were growth retardation (51%), followed by muscle weakness (41%), weight loss (3l%), polyuria (28%), convulsions (26%), polydipsia (26%), etc. The most common symptoms of adult type are muscle weakness (40%), followed by fatigue (21%), convulsions (26%), less common symptoms such as convulsions, paresthesia, enuresis, nocturnal urine, constipation, nausea, vomiting, Even intestinal obstruction, halophilic, vinegar or sour pickles, orthostatic hypotension, short stature, mental retardation, gout, hypercalciuria, renal calcification, progressive renal failure, rickets, magnesium deficiency, polycythemia, etc. It is worth noting that some patients (10% of children, 37% of adults) are asymptomatic and diagnosed for other reasons. Two patients with this disease have been reported to have a special face, large head, prominent forehead, triangular face, ear Prominent, big eyes, under the mouth.
Examine
Pediatric Bart Syndrome
Laboratory examination
Most cases have significant hypokalemia, generally below 2.5mmol / L, and as low as 1.5mmol / L. Metabolic alkalosis is also a common manifestation, blood HCO3- increased (28 ~ 45mmol / L), blood H + value is increased or normal by the metabolic mechanism, hypokalemia or renal insufficiency, there may also be low sodium or low chlorine Blood, infants and young children with hypochloremia and alkalosis are the most serious.
2. Other auxiliary inspections
Regular imaging examinations, such as X-ray examination, B-ultrasound and electrocardiogram, etc., if necessary, do EEG and brain CT examinations.
Diagnosis
Diagnostic identification of children with Barth Syndrome
diagnosis
The diagnosis points of this disease are:
1. Hypokalemia (1.5 ~ 2.5mmol / L).
2. High urinary potassium (>20mmol/L).
3. Metabolic alkalosis (plasma HCO3->30mmol/L).
4. Hyperrenalemia.
5. Hyperaldosteronism.
6. It is not sensitive to exogenous vasopressin.
7. Glomerular hyperplasia.
8. Hypochloremia (urine chlorine > 20mmol / L).
9. Normal blood pressure, clinically can be gradually diagnosed according to the diagnostic procedure of Bartter syndrome shown in Figure 1.
Differential diagnosis
1. Primary aldosteronism: hypokalemia and hyperaldosteronism can occur, but hypertension and hyporeninemia are sensitive to angiotensin.
2. Pseudoaldosteronism (IAddle syndrome) is also hypokalemia metabolic alkalosis, but hypertension, hyporenalemia and hypoaldosteronism.
3. False Bartter syndrome: due to abuse of diuretics, laxatives or long-term diarrhea, loss of potassium and chloride, hypokalemia, hyperreninemia and hyperaldosteronism, but discontinuation of the above drugs, symptoms Better.
