ENFERMEDAD DE BARTTER PDF
Bartter’s syndrome is a rare renal tubular disorder with an .. van der Vliet W, Claverie-Martín F. Enfermedad de Bartter neonatal diagnosticada. Bartter’s syndrome: evaluation of statural growth and metabolic profile. Síndrome . Objetivo: El síndrome de Bartter (SB) es una enfermedad rara, pero una de. Bartter syndrome with hypocalcemia is a type of Bartter syndrome (see this term) characterized by hypocalcemia, hypomagnesemia and hypoparathyroidism.
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Síndrome de Gitelman
The infant was advised exclusive breastfeeding for 2. Patients with type 5 develop parathormone deficit, as well as the symptoms that are common to all types of the enfermedar 5. The neonatal period usually passes without major problems.
Bartter syndrome is a group of rare autosomal-recessive disorders caused by a defect in distal tubule transport of sodium and chloride.
Orphanet: SÃndrome de Bartter con hipocalcemia
The authors present the case of an month-old child with early failure to thrive and severe regurgitation. Blood gases and plasma electrolytes raise the index of suspicion by revealing hypochloraemic metabolic alkalosis and hypokalaemia. Treatment With the clinical diagnosis of Bartter syndrome, the child began therapy with increasing supplementation of potassium chloride, in order to normalise plasma potassium levels, to which was later added indomethacin.
There is no specific treatment, correction of dehydration and electrolyte imbalance are the important aspects of management. The investigation revealed negative allergology study, normal sweat test, negative antitransglutaminase antibody, abdominal and kidney ultrasound without changes, including nephrocalcinosis and endoscopy with incompetent cardia and normal intestinal biopsy.
Bartter syndromes and other salt-losing tubulopathies.
Blood bartfer is typically normal. Rather, the expression denotes different variations such as antenatal Bartter syndrome, classic Bartter syndrome and Gitelman syndrome. The renal ultrasound at D3 was normal and at D36 was suggestive of macroscopic nephrocalcinosis both renal sinuses had hyper-reflected spots ; at 8 months medullary nephrocalcinosis was confirmed the medullary pyramids were hyperechoic, bilaterally, and cortical thickness was preserved with no signs of hydronephrosis.
Chronic hypokalaemia can be addressed pharmacologically with either amiloride or aldosterone antagonists acting in the cortical portion of the collecting duct, but these agents impair important compensatory mechanisms for sodium reabsorption.
Blood gases and plasma electrolytes raise suspicion of this diagnosis and the definitive diagnosis is made by genetic study. Prenatal diagnosis can be made by documenting high chloride content of the amniotic fluid and mutational analysis of genomic DNA extracted from cultured amniocytes obtained by amniocentesis 4,6.
Although presumptive diagnosis of ABS can be made on clinical and laboratory grounds, only the molecular study allows a definitive diagnosis and subsequent genetic counseling 8. We report a case of classic Bartter syndrome with delayed diagnosis, successful treatment and molecular study. At 5 months, following hospital admission for acute gastroenteritis with mild dehydration with metabolic alkalosis pH 7. The mother can be treated antenatally with indomethacin, which improves the prognosis 3,4.
Hyperplasia of the juxtaglomerular apparatus has been observed but can be mild or even absent. Genetics of hypercalciuric stone forming diseases. On follow up, failure to thrive was observed, with an evolution for height and weight under percentile 3 based on the World Health Organization WHO child growth charts. Clearly, this channel malfunction will cause an altered transport of sodium and chloride in the enfermedaf nephron.
Case presentation An month-old female child was bxrtter.
Tubulopatías | Renaltube
Bartter syndrome with hypocalcemia is a type of Bartter syndrome see this term characterized by hypocalcemia, hypomagnesemia and hypoparathyroidism along with features of Henle’s loop dysfunction polyuria, hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II.
Variable extents of extracellular volume depletion and secondary electrolyte disturbances contribute to a rather variable bwrtter phenotype. Nephron Physiol ; J Bras Nefrol ;34 1: Summary and related df. Types 1 and 2 are denominated ABS, because of their early clinical presentation. Only comments written in English can be processed.
Health care resources for this disease Expert centres Diagnostic tests 29 Patient organisations 34 Orphan drug s 1.
At 11 months, the child was referred to the nephrology unit due to persistence of clinical symptoms associated with metabolic alkalosis pH 7. Furthermore, nearly all ABS patients develop medullary nephrocalcinosis within the first month of life 1which was also observed by us. Classic Bartter syndrome is a rare disease, which may lead to unnecessary medical investigation and diagnosis delay.
An improved terminology and barter of Bartter-like syndromes. The newborn was discharged on the 6 th week of life, so we decided not to start indomethacin because of the risk of necrotizing enterocolitis and acute renal failure before this age 1,3,7. Published online Jul Enfermeedad a year of follow-up, there was a reduction of polyuria, stable GFR, gradual improvement of psychomotor development and growth, and enfegmedad potassium and bicarbonate levels normalised.
Table 1 Laboratory tests on Nephrology Unit admission. Amirlak I, Dawson KP. With the clinical diagnosis of Bartter syndrome, the emfermedad began therapy with increasing supplementation of potassium chloride, in order to normalise plasma potassium levels, to which was later added indomethacin. Antenatal Bartter syndrome results from disturbed salt reabsorption along the thick ascending limb of Henle TAL due to defects either in the NKCC2 sodium-potassium-chloride co-transporter gene, renal outer medullary potassium channel potassium ion channel gene, barttin or both ClC-Ka and ClC-Kb chloride ion channel genes.