Table 1.
Similarities and differences among phenotype in patients with HELIX syndrome.
| Reference | Bongers [34] | Klar [35] | Hadj-Rabia [28] | Meyers [36] | Overall (%) |
|---|---|---|---|---|---|
| Area of Origin | Europe | Pakistan | North Africa, Pakistan | South America | |
| Consanguinity | No | Yes | Yes | Yes | |
| Hypohidrosis | N.D. | 13/13 | 6/6 | 1/1 | 20/20 (100%) |
| Electrolyte imbalance | 2/2 | 6/7 | 6/6 | 1/1 | 15/16 (94%) |
| Hypolacrimia | N.D. | 13/13 | 6/6 | 1/1 | 20/20 (100%) |
| Ichthyosis | N.D. | N.D. | 6/6 | 0/1 | 6/7 (86%) |
| Xerostomia | N.D. | 13/13 | 6/6 | 1/1 | 20/20 (100%) |
| Plasma abnormalities | |||||
| Hypokalemia | 2/2 | 0/7 | 3/6 | 1/1 | 6/16 (38%) |
| Hypermagnesemia | 1/2 | 6/7 | 6/6 | 1/1 | 14/16 (88%) |
| eGFR < 60 mL/min/1.73 m2 | 1/2 | 0/3 | 1/6 | 1/1 | 3/12 (25%) |
| Secondary hyperaldosteronism | N.D. | N.D. | 6/6 | Hyperaldosteronism without hyperreninism | |
| Nephrolithiasis | 0/2 | 4/13 | 0/6 | 0/1 | 4/22 (18%) |
N.D.: not determined.