The disorder can cause polyhydramnios, which is an increased volume of fluid surrounding the fetus amniotic fluid. We report a patient with the early onset of the syndrome and a similar history in a previous sibling who died in early neonatal life. Bartter syndrome is an inherited renal tubular disorder caused by a defective salt reabsorption in the thick ascending limb of loop of henle, resulting in salt wasting. Bartter syndrome bs is a hereditary condition transmitted as an autosomal recessive bartter type 1 to 4 or dominant trait bartter type 5. The antenatal form of bartter syndrome is a lifethreatening disorder in which both renal tubular hypokalemic alkalosis and profound systemic symptoms are manifest seyberth et al. The prevalence of gitelman syndrome has been estimated to be between 1 to 10 in 40,000 compared with 1 in 1,000,000 for bartter syndrome. Neonatal bartter syndrome, indian journal of pediatrics. Increasing polyhydramnios without apparent fetal or placental abnormalities should. Phenotypegenotype correlation in antenatal and neonatal. However, once a diagnosis is made, the disorder is known to respond well to fluid and electrolyte management. Pdf we report a case of neonatal bartter syndrome in a 31 weeks premature baby girl with antenatal unexplained polyhydramnios requiring. The lower prevalence of bartter syndrome in the population may be due at least in part to prenatal or neonatal death resulting from the disorder before it could be diagnosed. Diagnosis of neonatal bartter syndrome is even more difficult in very preterm infants. Bartter syndrome, there is a riskof acute volume depletion in subjects with loop of henle defect.
The baby born preterm following a pregnancy complicated by polyhydramnios, presented at 7 months of age with failure to thrive, gastroenteritis and facial dysmorphisms. The disease associates hypokalemic alkalosis with varying degrees of. Neonatal or antenatal bartters syndrome is observed in newborn infants and is characterized by polyhydramnios, premature delivery, lifethreatening episodes of fever and dehydration during the early weeks of life, growth retardation, hypercalciuria, and earlyonset nephrocalcinosis. However, a rare, severe, but transient form of antenatal bartters syndrome due to an xlinked melanomaassociated antigen d2 maged2 mutation has recently been described. Journal of the korean society of pediatric nephrology 2005.
Several forms of bartters syndrome have been described, caused by mutations in the genes encoding transport proteins in the thick ascending limb. Neonatal bartter syndrome with unilateral multicystic. Lateonset bartter syndrome type ii clinical kidney. Table 1 shows a summary of the gene mutations and gene products in bartter syndrome and gitelman syndrome. Bartter syndrome is a group of very similar kidney disorders that cause an imbalance of potassium, sodium, chloride, and related molecules in the body in some cases, bartter syndrome becomes apparent before birth. Affected infants typically do not grow and gain weight as expected failure to thrive. Type iv neonatal bartter syndrome complicated with.
An unusual feature was the absence of the classical biochemical abnormality of hypochloremic alkalosis early in the course of the disease. Surveys from around the world suggest that up to a third of very low birthweight infants are hyponatraemic in the first week after birth and between 25 and 65% thereafter unpublished data. The abnormalities begin in utero with marked fetal polyuria that leads to polyhydramnios between 24 and 30 weeks of gestation and, typically, premature. Our aim was to study the frequency, clinical characteristics and outcome of each genetic subtype. In some cases, the condition manifests before birth with increased amniotic fluid surrounding the affected fetus polyhydramnios. Antenatal bartter syndrome abs is a rare autosomal recessive renal tubular disorder. Bartter syndrome is a group of similar rare conditions that affect the kidneys. Rica, the frequency of neonatal bartter syndrome is ap proximately 1. Its genetic, which means its caused by a problem with a gene. If you have it, too much salt and calcium leave your.
Neonatal bartter syndrome request pdf researchgate. Here we report a case of genetically diagnosed nbs. This was supported by findings of high renin and aldosterone levels. Neonatal pseudobartter syndrome due to maternal eating. Neonates with bartter syndrome have enormous fluid and. A case report on neonatal bartter syndrome and its effective managementclinical pharmacist perspective kandimalla chaitanya, chandra jahnavi, yerragundla kanthi kiran, apollo james, t raman ashok kumar and thangavel sivakumar department of pharmacy practice, nandha college of pharmacy, erode, tamilnadu, india. Bartter syndrome and gitelman syndrome should be suspected in children with characteristic symptoms or incidentally noted laboratory abnormalities, such as metabolic alkalosis and hypokalemia. A total of 4 of 153 low birth weight infants at our hospital were found to have pseudobartter syndrome in 2005 and 2006. Early diagnosis of bartter syndrome bs in the neonatal period is a clinical challenge, more so in an extremely low birth weight elbw baby because of the inherent renal immaturity and the associated difficulty in fluid management. Anteneonatal bartter syndrome bs is a hereditary saltlosing tubulopathy due to mutations in genes encoding proteins involved in nacl reabsorption in the thick ascending limb of henles loop.
We report a case of a 31 weeks, male baby was born by emergency. Bartter syndrome comprises several closely related renal tubular disorders that can be grouped into at least 3 clinical phenotypes. Bartter syndrome is a renal tubular disorder characterized by hypokalemia, hypochloremic metabolic. In this paper, we report a case of neonatal bartter syndrome associated with unilateral multicystic dysplastic kidney disease. Type iv bartter syndrome studies have identified a novel type iv bartter syndrome. Bartters syndrome comes of age american academy of. Genetic and rare diseases information center gard po box 8126, gaithersburg, md 208988126 tollfree. Bartter syndrome genetic and rare diseases information. Atypical presentation of classical bartter syndrome as a. If you have problems viewing pdf files, download the latest version of adobe reader. Hydrochlorothiazide in general may also induce acute.
Neonatal bartter syndrome is characterized by antenatal presentation with polyhydramnios. Measurement of urine electrolytes shows high levels of sodium, potassium, and chloride that are inappropriate for the euvolemic or hypovolemic state of. Bartter syndrome, neonatal introduction neonatal bartter syndrome is a rare condition resulting in defective absorption of sodium and chloride in the thick ascending loop of henle resulting in excessive loss of urinary electrolytes and fluid. Mutations in the romk1 potassium channel gene kcnj1 cause antenatalneonatal bartter syndrome type ii abs ii, a renal disorder that begins in utero, accounting for the polyhydramnios and premature delivery that is typical in affected infants, who develop massive renal salt wasting, hypokalaemic metabolic alkalosis, secondary hyperreninaemic hyperaldosteronism. Patients are thin and have reduced muscle mass and a triangularly shaped face, which is characterized by a prominent forehead, large eyes, protruding ears, and drooping mouth. Unlike infants previously described with a similar clinical presentation, the urinary excretion rate of prostaglandin e2 in this child was similar to normal children and tammhorsfall protein was distributed normally in the thick ascending limb of the loop of henle. Neonatal bartter syndrome is observed in newborn infants and characterized by polyhydramnios, premature. Delayed diagnosis can result in severe dehydration with increased morbidity and mortality. Neonatal bartter syndrome type 1 pediatric oncall journal.
Neonatal bartter syndrome is observed in newborn infants and characterized by polyhydramnios, premature delivery, lifethreatening episodes of fever, polyuria, severe electrolyte derangements and dehydration during the early weeks of life, growth retardation, hypercalciuria, and earlyonset of nephrocalcinosis. For language access assistance, contact the ncats public information officer. The underlying renal abnormality results in excessive urinary losses of sodi. We describe a child with a neonatal presentation of bartters syndrome. The defective chloride transport in the loop of henle leads to fetal polyuria resulting in severe hydramnios and premature delivery. A case report on neonatal bartter syndrome and its. Bartter syndrome and gitelman syndrome are autosomal recessive renal disorders characterized by fluid, electrolyte, urinary, and hormonal abnormalities, including renal potassium, sodium, chloride, and hydrogen wasting. Managing neonatal bartter syndrome by achieving adequate weight gain is challenging. Bartter syndrome is characterized by hypokalemia, metabolic alkalosis, increased urinary excretion of sodium, potassium and chloride and normal blood pressure. A case of neonatal bartter syndrome child kidney dis. This autosomal recessive condition is caused by mutations of the kcnj1 gene that codes the inward rectifying romk channel. A boy was born at 31 weeks and 1 day, weighed 44 g, and had an apgar score of 88. Accordingly, bartter syndrome has been classified into five types table. Neonatal bartter syndrome is a rare condition resulting in defective absorption of sodium and chloride in the thick ascending loop of henle resulting in excessive loss of urinary electrolytes and fluid.
The lower prevalence of bartter syndrome in the population may be due at least in part to prenatal or neonatal death resulting from the disorder before it. Bartter syndrome, originally described by bartter and colleagues in 1962, represents a set of closely related, autosomal recessive renal tubular disorders characterized by hypokalemia, hypochloremia, metabolic alkalosis, and hyperreninemia with normal blood pressure. Early onset, unexplained maternal polyhydramnios often challenges the treating obstetrician. Bartter syndrome is a group of similar kidney disorders that cause an imbalance of potassium, sodium, chloride, and other molecules in the body. Neonatal bartter syndrome is observed in newborn infants and characterized by polyhydramnios, premature delivery, lifethreatening episodes of fever and dehydration during the early weeks of life. Neonatal bartter syndrome in an extremely low birth weight baby. Bartter syndrome is an inherited renal tubular disorder with hypokolemia, hypochloremic metabolic alkalosis, normal blood pressure with hyperreninemia and increased urinary loss of sodium, potassium and chloride. This syndrome is associated with an increased antenatal and neonatal mortality because many patients fail to thrive. Bartter syndrome is a group of very similar kidney disorders that cause an imbalance of potassium, sodium, chloride, and related molecules in the body. In some cases, bartter syndrome becomes apparent before birth. Bartter syndrome is a rare congenital renal tubular disorder causing an imbalance of potassium, sodium, chloride and calcium. Hajer aloulou 1, salma ben ameur 1, imen zouch 1, amira bouraoui 1, sonia abdelhak 2, rosa vargas poussou 3, thouraya kammoun 1, mongia hachicha 1.
Neonatal bartter syndrome nbs is an inherited renal tubular disorder associated with hypokalemic alkalosis. Bartter syndrome and gitelman syndrome pediatrics msd. The renal function subsequently improved but he progressively became hypokalaemic and alkalotic. Mutations in the furosemidesensitive sodiumpotassium2chloride cotransporter nkcc2 are associated with a severe form of antenatal bartters syndrome with polyhydramnios. Hydrochlorothiazide in general may also induce acute interstitial nephritis and hypersensitivity reactions. Hyponatraemia is common in inpatients and this includes newborns in neonatal intensive care units. Understanding bartter syndrome and gitelman syndrome. Gitelman syndrome gs, also referred to as familial hypokalemiahypomagnesemia, is a saltlosing tubulopathy characterized by hypokalemic metabolic alkalosis with hypomagnesemia and hypocalciuria. Antenatal bartters syndrome is a rare inherited disorder characterized by fetal polyhydramnios and polyuria that is usually detected between 24 and 30 weeks of gestation. Bs type ii or neonatal bartter syndrome with transient hyperkalemic metabolic acidosis or antenatal bartter syndrome. The initial neonatal presentation is hyperkalemic, metabolic acidosis that may mimic pseudohypoaldosteronism.
We assessed the correlation between weight gain in neonatal bartter syndrome and the introduction of fluid and sodium supplementations and indomethacin during the first 4 weeks of life. Clinical and biological signs of neonatal bartter syndrome are quite different from those encountered when this disease is diagnosed in older children. Nephrocalcinosis and placental findings in neonatal. Bartter syndrome has traditionally been classified into 3 main clinical variants. Pdf pthe neonatal form of bartter syndrome is characterized by intrauterine onset of polyuria leading to severe polyhydramnios. We report an infant with neonatal bartter syndrome, who improved with potassium supplements. First described in 1962 by american physician frederic crosby bartter 19141983. Antenatal bartter syndrome bs is a rare autosomal recessive, renal tubular disorder that can lead to fetal polyuria, severe hydramnios, and. At 34 weeks of age, due to persistent tubulopathy, the diagnosis of bartters syndrome was suspected.
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