MOLECULAR STUDY -BARTTER SYNDROME TYPE 3 (DELETIONS/ DUPLICATIONS GENE CLCNKB), WHOLE BLOOD

New Test in CIC Catalog

Test Code: 4015

Sample:	Whole blood - EDTA (5 ml)
Conservation:	Refrigerated
Method:	Multiplex Ligation-dependent Probe Amplification-MLPA
Set Up Days:	Daily
TAT (Days):	30 days
Information:
Patients with antenatal Bartter syndrome (type 3) often present with polyhydramnios and growth retardation and were delivered prematurely. The inability of the kidney tubules to retain salt and water results in urinary fluid loss, so polyuria is common. The resulting volume depletion increases thirst, and the normal response is to increase fluid intake. If patients cannot receive sufficient salt and water, dehydration and altered mental status can occur. In severe cases of Bartter syndrome, vomiting is not uncommon, producing further volume depletion. Inability of the kidney tubules to retain potassium, calcium, or magnesium can lead to muscle weakness, spasms, tetany, or palpitations. A few patients with severe cases of antenatal Bartter syndrome have also had mental retardation. Bartter syndrome type 1 and 2 are transmitted following an autosomal recessive pattern. They are caused by homozygous or compound heterozygous mutations in two genes encoding proteins involved in chloride reabsorption in the ascending part of Henle's loop: KCNJ1 gene (11q21-25) in type II and CLCNKB (1p36) in type III.

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