Table 1.

Molecular variants of CLCNKB and clinical characteristics of patients with Bartter syndromea

PatientEthnic OriginNucleotide ChangebConsequenceExonPolyhydramniosDiagnosisIso/HyposthenuriacHypercalciuriadNephrocalcinosisHypocalciuriaeHypomagnesemiaf
aBoth potential loss-of-function mutations were identified. One or two asterisks in consecutive patients indicate patients being siblings. Afr, African; cAm, caucasian American: Du. Dutch; Fr, French; FrCan, French Canadian; Ger, German; His, Hispanic; Ita, Italian; NAfr, North African; SAr, Saudi Arabian; Tur, Turkish; WestI, West Indian; f, familial; s, sporadic; c, consanguineous; homoz, homozygous; hemiz, hemizygous; LOF, potential loss-of-function; fs, frameshift; NA, data not available.
bSequence numbering according to Kieferle et al. (30).
cUrine osmolality ≤300 mosmol/kg.
dUrinary calcium excretion >6 mg/kg per 24 h.
eUrinary calcium excretion <1 mg/kg per 24 h.
fSerum magnesium level <0.65 mmol/L.
Birm14.1FrCan, c1105(CAT>CAA), homozH357Q11+Prenatally+++-+
Freib/Leuw200Afr, fdel CLCNKB, homozLOF1-19-6 mo+---+
NeckCB.3.1*WestI, fdel CLCNKB, homozLOF1-19-NANA---+
NeckCB.3.2*WestI, fdel CLCNKB, homozLOF1-19-6 mo-----
NeckCB.6Ita, s405(CCG>CTG), hemizP124L4-NA+----
NeckCB.S1NAfr, s925(AGC>AGA), homozS297R9-7 moNA++-+
Nijm8Du, fdel CLCNKB, homozLOF1-19+1 yrNA---NA
Marb7132Tur, cdel CLCNKB, homozLOF1-19+Prenatally+--+-
Marb7360Tur, cdel CLCNKB, homozLOF1-19+9 mo-+--+
Marb7117*Tur, cdel CLCNKB, homozLOF1-19-2 wk+----
Marb7196*Tur, cdel CLCNKB, homozLOF1-19-1 wk-----
Marb7096**Tur, cdel CLCNKB, homozLOF1-19-5 wk----+
Marb7245**Tur, cdel CLCNKB, homozLOF1-19-1 wk----NA
Marb7028Ger, c816-2(A>G), homozSplice acceptor8-9 mo---++
Marb7377Tur, c405(CCG>CTG), homozP124L4-10 mo-----
Marb7194Ger, sdel1423A, hemizfs463>X47813-2 yr-----
Marb7047*Ger, fdel CLCNKB, homozLOF1-19-5 wk-+/----
Marb7050*Ger, fdel CLCNKB, homozLOF1-19-4 yr-+/----
Marb7288cAm, s1347(CGC>CAC)R438H splice13+Prenatally-++-NA
264-2(A>C)donor2
Marb7062Ger, sdel CLCNKB, homozLOF1-19-2 mo----+
Marb7202Ger, s901-1(G>T), hemizSplice acceptor9-11 yr-+---
Marb7188Ger, sUnequal cross, hemizLOFSee text-4 yr--+--
Marb7183*Ger, f1924ins4bpfs630>X64417+2 yr-----
450(CTG>CCG)L139P4
Marb7182*Ger, f1924ins4bpfs630>X64417+1 mo----+
450(CTG>CCG)L139P4
TrouNN9NAfr, c611del78bp, homozLOF6+5 mo-----
All affected individuals8 of 25 (32%)5 of 22 (23%)5 of 25 (20%)4 of 25 (16%)2 of 25 (8%)9 of 23 (39%)
Index cases7 of 20 (35%)5 of 17 (29%)5 of 20 (25%)4 of 20 (20%)2 of 20 (10%)9 of 18 (50%)