|
| Author | Age at follow-up (years) | Mutation | Sodium requirement | Kayexalate dose | Height | Weight | Comments |
|
| Nur et al. | 5.4 | SCNN1A 1685 C>T
Missense | 23 mEq/kg/day | 2.4 g/kg/day | −1.5 SDS | −3.1 SDS | Frequent respiratory infections from age of 2 to 3 years, improved with increasing age. |
|
| Schaedel et al. [11] | | | | | | | |
| Patient 4 | 9 | SCNN1A 1685C>T;
SCNN1A 1477 T>C;
SCNN1A 1449delC
Missense, compound heterozygous | NA | NA | NA | NA | Frequent salt wasting episodes; constipation and gastric ulcer; infrequent respiratory symptoms. |
| Patient 1 | 2 | SCNN1A 1449delC
Frameshift, homozygous | NA | NA | NA | NA | Respiratory infections starting at 8 months. |
| Patient 3 | 8 | SCNN1A 729delA;
SCNN1A 1449delC
Frameshift, compound heterozygous | 160 mEq/day [12] | 10 g/day [12] | Short stature. [12] | NA | Requires antibiotics (often IV) for respiratory symptoms q4–8 weeks; recurrent pseudomonas pneumonias. [12] |
|
| Dirlewanger et al. [13] | 0.5 | SCNN1A c.727T>C
Missense, homozygous | 0 | 0 | NA | NA | Born prematurely; transient PHA; able to discontinue salt supplementation at 6 months.
Sibling born at term with identical mutation but no symptoms. |
|
| Edelheit et al. [14] | | | | | | | |
| Patient 44 | 8.3 | SCNN1A 1078G>T;
SCNN1A 1404delC | 8 g/day | 0 | NA | NA | No salt wasting episodes or respiratory tract infections after discharge at 4.5 months; Kayexalate discontinued at 15 months. |
| Patient TR2 | 0.4 | SCNN1A 1455delC
Frameshift, homozygous | 3 g/day | 12 g/day | NA | NA | Developing normally. |
|
| Hanukoglu et al. [15] | | | | | | | |
| Patient A | 11 | SCNN1A 327G>C;
SCNN1A His450fs
Compound heterozygous | 8 g/day | NA | 0.4 SDS | 0.9 SDS | No salt wasting after age of 9 years; no respiratory symptoms. |
| Patient B | 20 | SCNN1A
Arg508 Stop, homozygous | 15–20 g/day | NA | −2.1 SDS | 0.4 SDS | Decreased frequency and severity of salt wasting episodes and respiratory symptoms with age. |
| Patient C | 22.1 | No mutation found | <10 g/day | NA | −1.8 SDS | −0.1 SDS | No severe salt wasting or respiratory infection requiring hospitalization in the past 7 years despite poor compliance. |
|
| Ekinci et al. [16] | 3.25 | SCNN1A c.684+2 T>A
Splice-site, homozygous | 21.8 mEq/kg/day | 3.4 g/kg/day | 0 SDS | +2 SDS | No respiratory problems or hospitalizations since neonatal period. |
|
| Dogan et al. [17] | 3.5 | SCNN1B c.1266-1G>C
Splice-site, homozygous | 26 mEq/kg/day | 1.5 g/kg/day | −3.1 SDS | −1.3 SDS | Last hospitalization (for salt wasting and bronchopneumonia) at 11 months. |
|
| Adachi et al. [18] | 20 | SCNN1G 1627delG,
SCNN1G 1570-1G>A
Compound heterozygous | 0 | 0 | −2.2 SDS | NA | Discontinued salt supplementation at age of 11 years; one further hospitalization and IV outpatient therapy ×3 since that time. |
|
| Schweiger et al. [19] | 1 | SCNN1A Nt505delAC
Frameshift, homozygous | 11 mEq/kg/day NaCl
12 mEq/kg/day Na Citrate | NA | 5th percentile | 1st percentile | Mild oxygen requirement with chronic cough. |
|
| Belot et al. [20] | | | | | | | |
| Patient 1 | 3 | SCNN1B c.637C>T/p Gln213stop, homozygous | 50 mEq/kg/day | NA | 50th percentile | 50th percentile | Fed by gastrostomy; frequent severe dehydration attacks. |
| Patient 2 | 5 | SCNN1A c.1621C>T/p Arg508stop, homozygous | 30 mEq/kg/day | NA | 50th percentile | 50th percentile | Repeated severe dehydration episodes and bronchitis attacks. |
| Patient 3 | 0.67 | SCNN1G c.1318C>T/p Arg440stop, homozygous | 27 mEq/kg/day | NA | 50th percentile | 20th percentile | Severe hyperkalemia at 5 months after gastroenteritis. |
|
| Thomas et al. [21] | 7 | SCNN1B
Deletion in promoter region, homozygous | NA | NA | NA | NA | Significant respiratory symptoms with frequent hospitalizations when young; by age 7 years only symptom was exercise-induced cough. |
|
| Saxena et al. [22] | | | | | | | |
| Patient 11 | 15 | SCNN1A 1621C>T
Homozygous | NA | NA | NA | NA | Still requiring high amounts of sodium supplementation. |
| Patient 14 | 6.5 | SCNN1A 1669 +1 G>A
Splice-site, homozygous | 16 g/day [14] | NA | 10–25th percentile | 10–25th percentile | Repeated salt wasting episodes with decreasing frequency with age; died of cardiac arrest at age 6.5 years. |
| Patient 16 | 4 | SCNN1A 1439insT | 150–180 mEq/day | 15 g/day | NA | NA | Stable. |
|
| Welzel et al. [23] | | | | | | | |
| Patient 1 | 17 | SCNN1A c.587_588insC
Frameshift, premature stop, homozygous | 11.5 mEq/kg/day | NA | Normal height | Obese | Recurrent salt wasting crises; cystic fibrosis-like phenotype with bronchiectasis. |
| Patient 2 | 11.5 | SCNN1A c.1342_1343insTACA
Frameshift, premature stop, homozygous | NA | NA | Normal height | Normal weight | Salt wasting crises occurring once a year; no pulmonary symptoms. |
| Patient 3 | 1.75 | SCNN1A c.742delG
Premature stop, homozygous | 19 mEq/kg/day | 0.4 g/kg/day | −1.87 SDS | −2.15 SDS | Recurrent mild prolonged respiratory tract infections; eczema-like skin lesions. |
| Patient 4 | 3.8 | SCNN1A c.587_588insC
Frameshift, premature stop, homozygous | 20–28 mEq/kg/day | NA | −2.17 SDS | NA | Gastrostomy tube placed for failure to thrive; 2 pulmonary infections. |
| Patient 5 | 1.7 | SCNN1A c.1474C>T
Missense, premature stop, homozygous | 34 mEq/kg/day | NA | −0.7 SDS | −1.2 SDS | Recurrent salt wasting crises; cardiac arrest at age of 11 months during a crisis; pulmonary infections; mild rashes. |
| Patient 6 | 0.9 | SCNN1A c.189C>A
Premature stop, homozygous | 17 mEq/kg/day | NA | NA | NA | Neuromotor developmental delay; recurrent pulmonary infections; atopic-dermatitis-like rash; died of electrolyte imbalance during sepsis at age 11 months. |
| Patient 7 | 0.7 | SCNN1A c.1361-2A>G
Splice-site, homozygous | 10 mEq/kg/day | NA | NA | NA | Hospitalized for hyponatremic convulsion; 4 episodes of severe bronchiolitis. |
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