What is Antenatal Bartter Syndrome ?

In contrast to Classic Bartter Syndrome and Gitelman Syndrome, the Antenatal variant of Bartter Syndrome has both the features of metabolic alkalosis (from the low potassium), as well as profound systemic manifestations. Out of all of the variants this form is the most severe.

Antenatal Bartter Syndrome is characterized by polyhydraminos (Increased water in the uterus) due to polyuria in utero (Which means the fetus has urinated so much it has led to an increase in the fluid in the uterus. For this reason the infant is usually born premature.

Read the rest »

Antenatal Bartter Syndrome, Information for Healthcare Workers

In contrast to Classic Bartter Syndrome and Gitelman Syndrome, the Antenatal variant of Bartter Syndrome has both the features of renal tubular hypokalemic alkalosis as well as profound systemic manifestations. Antenatal Bartter Syndrome is characterized by polyhydraminos due to intrauterine polyuria, and premature delivery is common. After birth, life-threatening episodes of fever and dehydration occur secondary to profound polyuria, vomiting, and diarrhea.

Severe electrolyte imbalances and marked growth retardation are typical. The majority of these infants also have severe hypercalciuria with associated nephrocalcinosis and osteopenia. Biochemically, these patients are distinguished by marked stimulation of renal and systemic prostaglandin E2 production. Cyclooxygenase inhibitors,eg, Indomethacin, have been shown to reverse all the clinical and laboratory derangements, save for those related to calcium homeostasis.

Read the rest »

Prenatal Diagnosis in Hyperprostaglandin E Syndrome

OBJECTIVE

To describe prenatal genetic diagnosis in hyperprostaglandin E syndrome (HPS) and the effect of indomethacin therapy on the course of the disease before birth and in the neonatal period.

Read the rest »

Types of Bartter Syndrome

Bartter syndromes are defined as a family of inherited recessive autosomal tubulopathies. They are characterized by hypochloremia, hypokalemia, metabolic alkalosis associated with potassium renal leakage and normal blood pressure despite increased plasma renin activity. Read the rest »

A Case of Neonatal Bartter’s Syndrome

We describe a child with a neonatal presentation of Bartter’s syndrome. 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 Tamm-Horsfall protein was distributed normally in the thick ascending limb of the loop of Henle. The child failed to respond to indomethacin alone, but thrived after the addition of the angiotensin converting enzyme inhibitor, captopril.

Read the rest »

Prenatal Diagnosis of Bartter Syndrome

Biochemical examination of mother’s urine is useful for prenatal diagnosis of Bartter syndrome.

Bartter syndrome is characterized by renal potassium and chloride loss, hypokalaemia, hypochloraemic metabolic alkalosis and increased plasma renin activity along with elevated angiotensin II and hyperaldosteronism. For diagnosis we conducted biochemical examinations of both amniotic fluid and the mother’s urine.

Read the rest »

Indomethacin for Growth

Neonatal Bartter syndrome differs from the classical Bartter syndrome in the occurrence of antenatal presentation with polyhydramnios. Nephrocalcinosis and severe growth retardation are common sequelae. Indomethacin has been reported to improve linear growth, but its use in the early newborn period has been infrequently described.

Read the rest »

Bartter Syndrome Suggested by Polyuria and Nocturia

Presentation

A 6-year-old boy who is developmentally delayed is brought to your office because he has been experiencing polydipsia, nocturia, and polyuria for several months. He is 3 to 4 years delayed in language, motor, and social skills. Physical examination reveals a healthy-looking child whose height and weight are between the 5th and 10th percentiles. All vital signs are normal, and no abnormalities are found on complete physical examination.

Read the rest »

Bartter Syndrome, Diagnosis in Children

Bartter syndrome is a rare form of renal potassium wasting characterized by hypokalemia, normal blood pressure, vascular insensitivity to pressor agents, and elevated plasma concentrations of renin and aldosterone. In certain families, the disorder may be inherited as an autosomal recessive trait.

Read the rest »

Hypocalcemic Seizures in Neonates

A case of a 2-week-old infant who presented to the emergency department (ED) with rapid eye blinking and jerking in the absence of physical abnormalities is presented. Hypocalcemia and hypomagnesemia were detected. This case represents the common presentation, therapy, and outcome of neonatal hypocalcemia. It is of particular interest to ED physicians because most of the time the etiology of neonatal seizures can be diagnosed in the ED and appropriate therapy can be immediately instituted.

Read the rest »