Table 1.
Clinical features at presentation of the examined patients with Type 3 BS.
| cDNA (NM_000085.4) and aminoacidic variation |
Sex and age at onset | Heterozygous/homozygous | Serum K+ (mmol/L) | Serum Mg2+ (mg/dl) |
Serum HCO3- (mmol/L) | Serum renin (ng/ml/h) |
Serum aldosterone (pg/ml) |
Serum creatinine (mg/dl) |
Urinary Ca2+ (mg/dl) |
Clinical parameters | |
|---|---|---|---|---|---|---|---|---|---|---|---|
| Patient I | c.500G > T p.Gly167Val |
M, 2 years old | Heterozygous with CLCNKB deletion | 2,3 | 2,8 | 33,0 | 16,26 | 476 | 0,3 | 3,2 | Growth delay, hematuria, polydipsia, polyuria, nephrocalcinosis |
| Patient II | c.725C > A p.Ala242Glu |
F, 6 months | Heterozygous with CLCNKB deletion | 2,8 | 2,3 | 55,6 | N.D. | 800 | 0,2 | 7,84 | Growth delay, polyhydramnios, asthenia |
| Patient III | c.725C > A p.Ala242Glu |
F, 5 months | Heterozygous with CLCNKA/CLCNKB Chimeric gene§ | 3,0 | 1,8 | 55,0 | 264,6 | 30.9 | 1,34 | 0.6 | Slight reduction of weight growth, vomit, anorexia, dehydration |
| Patient IV | c.725C > A p.Ala242Glu |
F, 23 years old | Homozygous | 1,8 | 1,8 | 26,5 | N.D. | N.D. | 1,3 | N.D. | Asthenia, polydipsia, cramps, tingling, abdominal pain, polyuria, heart problems, tetany, hyperpyrexia |
| Patient V | c.865G > C p.Gly289Arg |
M, 5 months | Homozygous | 2,3 | 0,92 | 44,1 | 30 | 523,7 | 0,84 | 0,02 | Slowing growth from the second month, vomit, polyuria, anorexia |
§Deletion spanning from CLCNKA Exon 7 to CLCNKB Exon 6 included; HGVS nomenclature: chr1:g.(16353109_16353191) _(16374915_16374998)del.