Table 1.
Clinical features of dysregulated immunity in patients with salt-losing tubulopathy (SLT) compared to healthy and disease controls.
| Salt-losing tubulopathy, N = 47 | Healthy controls, N = 24 | Disease controls, N = 22 | P-value (SLT vs. healthy controls) | P-value (SLT vs. disease controls) | |
|---|---|---|---|---|---|
| Demographic | |||||
| Age (median; IQR) | 35 (28–43) | 34 (31–45.5) | 42 (22–53) | >0.99 | >0.99 |
| Sex (n, female; %) | 26 (55.3) | 15 (62.5) | 11 (50) | 0.56 | 0.68 |
| Bacterial Infections | |||||
| Any bacterial infection | 37 (78.7) | 8 (33.3) | 11 (50.0) | 0.0003 | 0.024 |
| Abscess | 10 (21.3) | 2 (8.3) | 0 (0.0) | 0.2 | 0.024 |
| Pneumonia | 8 (17.0) | 3 (12.5) | 2 (9.1) | 0.73 | 0.48 |
| Recurrent upper respiratory tract infection (URTI)a | 23 (48.9) | 3 (12.5) | 4 (18.1) | 0.0037 | 0.018 |
| Recurrent urinary tract infection (UTI)b | 17 (36.2) | 0 (0.0) | 4 (18.1) | 0.0003 | 0.17 |
| Other severe/recurrent bacterial infectionc,d | 12 (25.5) | 2 (8.3) | 5 (22.7) | 0.11 | >0.99 |
| Fungal Infections | |||||
| Any fungal infection | 25 (53.2) | 12 (50.0) | 7 (31.8) | 0.8 | 0.12 |
| Recurrent vaginal (≥2 episodes) or oral candidiasis | 18 (38.3) | 3 (12.5) | 5 (22.7) | 0.029 | 0.27 |
| Fungal fingernail infection | 6 (12.8) | 7 (29.2) | 0 (0.0) | 0.11 | 0.17 |
| Other severe/recurrent fungal infectione | 8 (17.0) | 3 (12.5) | 2 (9.1) | 0.74 | 0.48 |
| Viral Infections | |||||
| Any recurrent viral infection (≥2 episodes) or severe viral infection | 14 (33.3) | 9 (37.5) | 5 (21.7) | 0.79 | 0.57 |
| Recurrent varicella zoster virus (VZV) | 1 (2.3) | 1 (4.2) | 2 (9.1) | >0.99 | 0.27 |
| Recurrent human papilloma virus (HPV) | 9 (21.4) | 3 (12.5) | 2 (9.1) | 0.51 | 0.3 |
| Recurrent Herpes simplex virus (HSV) | 6 (14.2) | 5 (20.8) | 1 (4.5) | 0.51 | 0.41 |
| Other severe/recurrent viral infectionf | 1 (2.4) | 1 (4.2) | 3 (13.6) | >0.99 | 0.11 |
| Atopy | |||||
| Any atopic disease | 23 (48.9) | 11 (45.8) | 11 (50.0) | >0.99 | >0.99 |
| Asthma | 8 (17.0) | 5 (20.8) | 4 (18.1) | 0.75 | >0.99 |
| Eczema/dermatitis | 15 (31.9) | 2 (8.3) | 4 (18.1) | 0.039 | 0.26 |
| Hay fever/non-allergic rhinitis | 16 (34.0) | 6 (25.0) | 7 (31.8) | 0.59 | >0.99 |
| Allergy | |||||
| Any allergic disease | 28 (59.6) | 3 (12.5) | 10 (45.4) | 0.0001 | 0.31 |
| Contact/environmental allergy | 17 (36.2) | 2 (8.3) | 3 (13.6) | 0.012 | 0.08 |
| Food allergy | 8 (17.1) | 0 (0.0) | 3 (13.6) | 0.045 | >0.99 |
| Drug allergy | 12 (25.5) | 1 (4.2) | 6 (27.2) | 0.048 | >0.99 |
| Angiodemea/urticaria unexplained | 5 (10.6) | 0 (0.0) | 0 (0.0) | 0.16 | 0.17 |
Prevalence of each clinical feature is reported as number and percentage. SLT patients are compared to healthy controls and disease controls individually with a two-sided Fisher’s exact test (without adjustment for multiple comparison testing).
Source data are provided as a Source data file.
aIncluding tonsillitis, otitis, adenitis and sinusitis; ≥3 in worst year; or tonsillitis requiring tonsillectomy; or URTI requiring admission for intravenous antibiotics.
b≥3 in worst year in females; or any UTI in childhood; or any UTI in male.
cRequiring antibiotic treatment or admission.
dOther severe/recurrent bacterial infection in salt-losing tubulopathy: recurrent dental infection (1); necrotising gingivitis (1); appendicitis/diverticulitis (3); recurrent adenitis (1); skin (impetigo/cellulitis/wound) (3); recurrent gastroenteritis (2); lymphangitis (1); pelvic (1); septicaemia (staph) (1); recurrent mastitis (1).
eOther severe/recurrent fungal infection in salt-losing tubulopathy: skin (7); fungal UTI (1).
fOther severe/recurrent viral infection in salt-losing tubulopathy: herpetic stomatitis (1).
Significant P values (P ≤ 0.05) are highlighted in bold.