On the basis of the underlying gene mutation, Bartter syndrome can be classified as Bartter syndrome type 1, type 2, type 3, type 4a and 4b and Gitelman syndrome
. Presently, according to the National Organization for Rare Disorders (NORD), Bartter syndrome is classified under a new classification system, which is based upon the specific part of the kidney affected.
However, in 2010 the wife was diagnosed with Gitelman syndrome
, making a pregnancy life-threatening for her.
In the setting of these findings and normal blood pressure, a diagnosis of Gitelman syndrome
also reported a patient with a genetic combination of Gitelman syndrome
and autosomal dominant diabetes insipidus .
The various causes of hypoKPP include thyrotoxicosis, use of diuretics, distal RTA (dRTA)(6%), Gitelman syndrome
, liquorice consumption, and primary hyperaldosteronism (2,3).
(GS), an autosomal recessive inherited disease (OMIM 263800) first reported by Gitelman in 1966, manifests mainly as hypokalemia, hypomagnesemia and hypocalciuria (1-5).
Antenatal diagnosis can be established by finding raised levels of chloride and aldosterone in amniotic fluid.5 Hypercalciuria is an important distinguishing marker between Bartter's and Gitelman syndrome
Below is the report of genotyping and diagnosis of a case of secondary Gitelman syndrome
(GS) based on next-generation sequencing.
The use of diuretics and vomiting (postemetic bicarbonaturia forces urinary potassium excretion, and the decrease in extracellular fluid increases aldosterone secretion) were excluded, so the remaining options were hypomagnesemia or genetic channelopathies, such as Bartter syndrome (BS) or Gitelman syndrome
They paddled from Nuneaton to Northampton to highlight a rare condition, Gitelman Syndrome
, which claimed the life of Julia's 28-year-old daughter Alyson nine years ago.
The most frequent causes of SAL in the paediatric age group are the salt-losing tubulopathies (e.g., Bartter syndrome, Gitelman syndrome
), autosomal recessive conditions characterised by the loss of [Na.sup.+] from the distal nephron with consequent RAS activation and persistent SAL.
Diuretic abuse can also be very similar to Gitelman syndrome
. Therefore, the urine assay for diuretics is of great importance in these patients.