Multisystem disease in two patients with G6PC3 deficiency resulting from G6PC3 G260R
| Patient no. . | Sex . | Age, y . | PMNs, /μL . | Infections . | Other clinical features . |
|---|---|---|---|---|---|
| 1 | M | 13 | 50-300 | Neonatal sepsis, frequent otitis media, frequent bronchitis, pneumonia, severe skin abscesses; frequent pharyngitis, cervical lymphadenitis, periodontal disease, severe dental caries, chronic oral ulcers | Cryptorchidism/testicular agenesis, inguinal hernia, prominent superficial veins, sensorineural hearing loss, heart valve abnormalities, asthma, bronchiectasis, iron deficiency anemia, giant platelets, muscle weakness, joint laxity, poor growth/malabsorption, intermittent abdominal pain |
| 2 | F | 9 | 50-900 | Frequent otitis media, frequent bronchitis, pneumonia, severe skin abscesses, frequent pharyngitis, cervical lymphadenitis, periodontal disease, severe dental caries, chronic oral ulcers, urosepsis | Prominent superficial veins, sensorineural hearing loss, atrial septal defect, bronchiectasis, iron deficiency anemia, giant platelets, muscle weakness, joint laxity, poor growth/malabsorption, intermittent abdominal pain |
| Patient no. . | Sex . | Age, y . | PMNs, /μL . | Infections . | Other clinical features . |
|---|---|---|---|---|---|
| 1 | M | 13 | 50-300 | Neonatal sepsis, frequent otitis media, frequent bronchitis, pneumonia, severe skin abscesses; frequent pharyngitis, cervical lymphadenitis, periodontal disease, severe dental caries, chronic oral ulcers | Cryptorchidism/testicular agenesis, inguinal hernia, prominent superficial veins, sensorineural hearing loss, heart valve abnormalities, asthma, bronchiectasis, iron deficiency anemia, giant platelets, muscle weakness, joint laxity, poor growth/malabsorption, intermittent abdominal pain |
| 2 | F | 9 | 50-900 | Frequent otitis media, frequent bronchitis, pneumonia, severe skin abscesses, frequent pharyngitis, cervical lymphadenitis, periodontal disease, severe dental caries, chronic oral ulcers, urosepsis | Prominent superficial veins, sensorineural hearing loss, atrial septal defect, bronchiectasis, iron deficiency anemia, giant platelets, muscle weakness, joint laxity, poor growth/malabsorption, intermittent abdominal pain |
PMNs indicates polymorphonuclear leukocytes.