What is Bartter’s Syndrome?
Bartter’s Syndrome is an inherited defect in the renal tubules that causes low potassium levels, low chloride levels, which in turn causes metabolic alkalosis. Bartter Syndrome, is not a single disorder but rather a set of closely related disorders. These Bartter-like syndromes share many of the same physiologic derangements, but differ with regard to the age of onset, the presenting symptoms, the magnitude of urinary potassium (K) and prostaglandin excretion, and the extent of urinary calcium excretion.
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.
What is Gitelman’s Syndrome ?
Gitelman’s syndrome is a rare inherited defect in the renal tubule of the kidneys. This defect causes the kidney to waste magnesium, sodium, potassium and chloride in the urine, instead of reabsorbing it back into the bloodstream. Urine calcium levels are lower than normal, despite normal serum values. This syndrome does not cause kidney failure nor does it cause the kidneys to function abnormally. The kidneys are normal. The problem is the reabsorption of important electrolytes and minerals.
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.
Gitelman Syndrome, Information for Healthcare Workers
History
Gitelman’s Syndrome was discovered in 1966 by Dr Hillel Gitelman. It was discovered that some patients with Bartter’s showed a different myriad of symptoms. Gitelman’s syndrome is also a renal salt wasting disorder but the defective tubule is in the thiazide-sensitive Na-Cl cotransporter in the distal convoluted tubule(DCT). Both disorders are associated with hypokalemia, renal potassium wasting, activation of the renin-angiotensin-aldosterone axis, and normal blood pressure. Unlike patients with Bartters, patients with Gitelman’s syndrome have hypomagnesemia, increased urinary magnesium, and decreased calcium excretion.
Hypokalemic Periodic Paralysis
Pediatrics in Review
Volume 18 Number 10 October 1997
Copyright 1997 American Academy of Pediatrics
This section of Pediatrics in Review reminds clinicians of those conditions that can present in a misleading fashion and require suspicion for early diagnosis. Emphasis has been placed on conditions in which early diagnosis is important and that the general pediatrician might be expected to encounter, at least once in a while.
Case 3 Presentation
A 16 year-old boy is referred to the emergency department for evaluation of generalized weakness. He reports that 2 days ago, following 2 days of “flu-like” symptoms, he became weak while climbing stairs. His weakness progressed rapidly; soon he was unable to move his extremities or sit up. His mother has helped him eat, drink, and urinate. He uses no medications, alcohol, or illicit drugs. He has no history of ingestions, fever, dyspnea, dysphagia, or paresthesias. He had a similar episode of weakness 4 years ago that was less severe and resolved spontaneously within 2 days. His grandmother has had similar episodes.