[MIM 241 200, 601 198, 601 676, 602 522, 607364, 613 090]

(Hypokalemic alkalosis - hypercalciuria)

Prevalence 1/830,000. Mutations in genes coding for proteins expressed by the cells of the large part of the ascending limb of the Henle's loop. Although five genetic variants (types I to V) are described, there are only two clinical forms: the so-called classic (type III, sometimes IV) and one antenatal or infantile (types I, II and IV) forms.

• type I: SLC12A1 gene (15q 15-21) coding for NKCC2, the apical Na-K-Cl  bumetanide-sensitive co-carrier
• type II: KCNJ1 gene (11q 21-25) coding for the ATP-sensitive luminal ROMK potassium channel
• type III: CLCNKB gene (1p36) coding for the basolateral Cl channel
• type IVa: BSND gene (1p31) coding for barrtin, a subunit of the Cl channel; associated to deafness and mental retardation
• type IVb: CLCNKA and CLNCKB genes: with deafness and mental retardation
• type V: CASR gene (3q 13.3 - q21), coding for a calcium receptor

Autosomal recessive transmission (types I to IVa), digenic (IVb) or dominant (type V).

In the classical form : polyuria-polydipsia, tendency to dehydration and variable failure to thrive due to:

(1) a renal tubular defect (cocarrier Na + K +-2 Cl - at the level of the large part of the ascending limb of the Henle's loop, or K + or Cl channels) resulting in a loss of Na + and K + with hypokalemic alkalosis (decreased renal reabsorption of chlorides) and hypercalciuria; hypomagnesemia is associated in 30% of cases (type III); nephrocalcinosis is rare.

(2) hyper-reninemia and hyperaldosteronism with vascular resistance to angiotensin II and hyperplasia of the juxtaglomerular apparatus; 

(3) volemic depletion with a decreased response to vasopressors. 

(4) increased synthesis of prostaglandin E2 (vasodilator) that causes chronic hypotension: treatment with NSAIDs is effective. 

Special signs: hypocalcemia in type V and deafness in types IVa and IVb.

Type IV forms evolve to terminal kidney failure, on the contrary of the other types.

In the antenatal or infantile forms: maternal polyhydramnios, prematurity, severe polyuria, hypercalciuria, nephrocalcinosis, and elevated prostaglandin E2 levels

Anesthetic implications: 

short stature; check BP; monitoring of electrolytes and volemia; risk of arterial hypotension.

References : 

-        Kannan S, Delph Y, Moseley HS. 
Anaesthetic management of a child with Bartter's syndrome. 
Can J Anaesth 1995; 42:808-12.

-        Momeni M, Lois F, Jacquet L
Vasodilatory shock during cardiopulmonary bypass in Bartter syndrome. 
J Cardiothorac Vasc Anesth 2008; 22: 746-7.

-         Salomon R. 
Syndromes avec anomalies rénales in Progrès en Pédiatrie : syndromes dysmorphiques par Lacombe D et Philip N, Doin 2013, p 139-50

Updated: November 2019