Neonatal bartter syndrome.
نویسندگان
چکیده
We report a case of neonatal Bartter syndrome in a 31 weeks premature baby girl with antenatal unexplained polyhydramnios requiring amnioreduction. She presented with early onset E. coli septicaemia and severe dehydration leading to pre-renal renal impairment which obscure the typical biochemical changes of hypokalaemic hypochloraemic metabolic alkalosis.
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Bartter syndrome presenting in neonatal or early infancy is characterized by salt loosing tubulopathy, hypokalemia, and metabolic alkalosis. Failure to thrive is one of the most common findings in neonatal bartter syndrome. Angiotensin converting enzyme inhibitors are one of the therapeutic options for improving growth in these patients.We describe a case of neonatal bartter syndrome with mild ...
متن کاملNeonatal Bartter syndrome.
Bartter syndrome is an inherited renal tubular disorder with hypokalemia, hypochloremic metabolic alkalosis, normal blood pressure with hyper-reninemia and increased urinary loss of sodium, potassium and chloride. We report an infant with neonatal Bartter syndrome, who improved with potassium supplements.
متن کاملNephrocalcinosis as adult presentation of Bartter syndrome type II.
Bartter syndrome consists a group of rare autosomal-recessive renal tubulopathies characterised by renal salt wasting, hypokalaemic metabolic alkalosis, hypercalciuria and hyperreninaemic hyperaldosteronism. It is classified into five types. Mutations in the KCNJ1 gene (classified as type II) usually cause the neonatal form of Bartter syndrome. We describe an adult patient with a homozygous KCN...
متن کاملBartter syndrome and Gitelman syndrome
Conclusions: Patients with Bartter syndrome types 1, 2 and 4 present at a younger age than classic Bartter syndrome type 3. They present with sypmtoms, often quite severe in the neonatal period. Patients with classic Bartter syndrome type 3 present later in life and may be sporadically asymptomatic or mildly symptomatic. The severe, steady-state hypokalemia in Bartter syndrome and Gitelman synd...
متن کاملMaternal Pseudo-Bartter Syndrome Associated with Severe Perinatal Brain Injury.
BACKGROUND Maternal electrolyte imbalance is rarely reported as causative factor of severe perinatal brain injury. CASE CHARACTERISTICS This case outlines a unique maternal and neonatal pseudo-Bartter syndrome presented with metabolic alkalosis and hypochloremia due to maternal severe vomiting. OBSERVATION Neonatal MRI brain revealed extensive brain hemorrhages with porencephalic cysts. Sub...
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ورودعنوان ژورنال:
- The Medical journal of Malaysia
دوره 69 5 شماره
صفحات -
تاریخ انتشار 2014