|
| Age | Weight/height SDS | Main diagnosis and symptoms. Treatment | Somatic features | Laboratory features |
|
| 1 month | N/A | Septicemia, pneumonia | Erythroderma | IgE 855 IU/mL (<10) |
|
| 3–5 months | N/A | Pneumonias
Urinary tract infections
Intermittent dyspepsia
Meningitis | Hypotrophy
Enlarged peripheral lymph nodes Pruritic eczematous dermatitis | N/A |
|
| 6 months | Weight 4590 g (−3.67 SDS)
Height 60 cm (−2.6 SDS) | Bronchiolitis
Complex treatment with respiratory therapy, antibiotics, topical emollients/steroids, antihistamines, and dietary feeding with protein hydrolyzed lactose free formula | Hypotrophy
Enlarged peripheral lymph nodes
Pruritic eczematous dermatitis
Muscle hypotonia
Left kidney malrotation
Hydronephrosis and mild vesicoureteral reflux | IgG 9.11 g/L (1.39–9.34) IgM 1.02 g/L (0.2–1.2)
IgA 0.38 g/L (0.04–0.78)
IgE > 4000 IU/mL (<10)
Eosinophilia 13%
Normal T and B cell subset quantification
Mild iron deficiency
Hemoglobin 115 g/L |
|
| 1.6 years | 7400 g
(−3.42 SDS) | Diabetes mellitus
Right thigh phlegmon
Transient watery diarrhea with weight loss up to 6800 g
Insulin dose of 1.3 U/kg b.w.
Surgical incision and antibiotics
Protein hydrolyzed lactose free formula and gluten-free diet | Coarse face with prominent forehead, broad nasal bridge, bulbous nose, and macroglossia
Joint hyperextensibility Subcutaneous cold abscesses on the neck and face
Eczematous dermatitis
Napkin’s dermatitis Balanoposthitis | Blood sugar 27 mmol/L
No ketones
Anti-GAD65 antibodies 32 ng/mL (normal <32)
Anti-insulin antibodies 60.1 IU/mL (<10)
Basal C-peptide 158.7 pmol/L (198–960)
Tissue transglutaminase IgA antibodies 5.2 U/mL (<7.0)
TSH 1.34 mIU/L (0.4–4.2)
fT4 11.2 pmol/L (9.8–18.9) |
|
| 1.9 years | 9300 g
(−2.80 SDS) | Intermittent watery diarrhea
Insulin dose 0.75 U/kg b.w.
Lactose/gluten-free diet | Mentioned above | HbA1c 7.65% (4–6) (COBAS INTEGRA/Roche diagnostic system) |
|
| 2.1–2.3 years | 7000–11500 g | Severe watery diarrhea Hypoglycemias
Vomiting and intolerance to oral feeding
Reduced insulin dose 0.3 to 0.1 U/kg b.w
Parenteral nutrition
Antibiotics i.v.
Corticosteroids i.v.
Drainage of peritoneal transudation
Diuretics | Mentioned above + severe malnutrition
Enlarged tensed abdomen, visible abdominal wall veins, intestinal sacculations, and significant abdominal dropsy
Lung hypervolemia on X-ray examination | Proteinuria with granular and hyaline casts
Hypoproteinemia 52.8 g/L
Na 120 mmol/L
Ca 1.89 mmol/L
K 3.9 mmol/L
Metabolic nonketotic acidosis (pH 7.15)
Normal urea
Creatinine and transaminases
Uroculture negative
Varied bacterial and Candida contamination of the stools |
|
