Atypical Hemolytic Uremic Syndrome (aHUS) and Adenosine Deaminase (ADA)-Deficient Severe Combined Immunodeficiency (SCID)—Two Diseases That Exacerbate Each Other: Case Report
Abstract
:1. Introduction
Aim
2. Clinical Report
3. Discussion
3.1. Atypical Hemolytic Uremic Syndrome
3.2. Adenosine Deaminase (ADA)-Deficient Severe Combined Immune Deficiency (SCID)
3.3. ADA-SCID and aHUS Interaction
4. Conclusions
Supplementary Materials
Author Contributions
Funding
Institutional Review Board Statement
Informed Consent Statement
Conflicts of Interest
References
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Laboratory Tests | A | B | Reference Ranges |
---|---|---|---|
Complete Blood Count On admission On discharge | |||
Hematocrit [%] | 32.5, 30.7 | 32.25 | 32–42 |
Red blood cell count [106/uL] | 4.98, 3.52 | 4.05 | 3.8–5.4 |
Hemoglobin [g/dL] | 11.3, 10.2 | 11.98 | 10.5–14 |
White cell count [103/uL] | 3.79, 5.26 | 4.53 | 6–14 |
Granulocytes [103/uL] | 1.35, 1.76 | 2.7 | 1.6–6 |
Lymphocytes [103/uL] | 0.46, 0.93 | 0.4 | 1.0–3.3 |
Monocytes [103/uL] | 1.56, 0.42 | 1.2 | 0.15–0.6 |
Mean corpuscular volume [fL] | 65.3, 87.22 | 87.13 | 72–88 |
Mean corpuscular hemoglobin [pg] | 22.7, 28.92 | 29.62 | 24–30 |
Mean corpuscular hemoglobin concentration [g/dL] | 34.8, 33.16 | 34 | 32–36 |
Platelet count [103/uL] | 50, 361 | 379 | 150–450 |
Reticulocyte count [109/L] | 87.6 | 70.2 | 26–85 |
Serum laboratory tests | |||
Albumins [g/L] | 29.84, 38.44 | 29.65 | 30–50 |
Aspartate aminotransferase [U/L] | 660.6, 104.3 | 51.2 | 0.40 |
Alanin aminotransferase [U/L] | 178.1, 49.2 | 33.2 | 0–40 |
Bilirubin (total) [umol/L] | 22.8, 3.9 | 0.5 | 3.4–22 |
Complement component 3 [g/L] | 0.84, 0.86 | - | 0.9–1.8 |
Complement component 4 [g/L] | 0.1, 0.28 | - | 0.1–0.4 |
C-reactive protein [mg/L] | 23.56, 2.63 | 37.95 | 0–5 |
Gamma glutamyltranspeptidase [U/L] | 198, 127 | 360 | 5–65 |
Total protein [g/L] | 41.1, 62.8 | 62.2 | 60–80 |
Creatinine [umol/L] | 149, 61 | 55 | 21–53 |
Uric acid [umol/L] | -, 226 | 243 | 202.3–416.5 |
Urea [mmol/L] | 23.1, 4.9 | 20.7 | 3.2–7.1 |
Lactate dehydrogenase [U/L] | 3757, 591 | - | 180–435 |
Sodium [mmol/L] | 121.1, 136 | 135 | 135–148 |
Potassium [mmol/L] | 5.43, 5.84 | 3.74 | 3.5–5.0 |
Magnesium [mmol/L] | 0.78, 0.87 | 1.05 | 0.7–1.1 |
Phosphate [mmol/L] | 1.15, 1.74 | 1.02 | 0.81–1.45 |
Ionised calcium [mmol/L] | 0.86, 1.19 | 1.11 | 1.1–1.35 |
Proteinuria [g/L] | 26.0, 1.35 | 0.75 | 0–0.15 |
Hematuria [RBC/HPF] | Massive, 5–10 | 1–3 | 0–3 |
Coagulation profile | |||
Activated partial thromboplastin time [s] | 40.2, 38.1 | 27.8 | 28–40 |
Prothrombin time [s] | 16.3, 13.1 | 12.5 | 11–16 |
International normalized ratio [INR] | 1.31, 0.99 | 0.95 | 0.9–1.3 |
Fibrinogen [mg/dL] | 178, 347 | 252 | 200–400 |
D-dimer [mg/mL] | 3.1, 1.76 | 1.05 | 0–0.5 |
Antithrombin III [%] | 90, 110 | 81 | 80–120 |
Gene | Description | Inheritance | Additional Information |
---|---|---|---|
ADAMTS13 | allele G rs2301612 | mutations in both copies of gene | maternal and paternal |
CD46 | allele A rs2796267 | mutations in both copies of gene | maternal and paternal |
CD46 | allele A rs2796268 | mutations in both copies of gene | maternal and paternal |
CD46 | allele G rs859705 | mutations in both copies of gene | maternal and paternal |
CFB | allele T rs13194698 | mutations in single copy of gene | maternal |
CFH | allele T rs3753394 | mutations in single copy of gene | paternal |
CFH | allele G rs800292 | mutations in both copies of gene | paternal |
CFH | allele T rs1061170 | mutations in single copy of gene | paternal |
CFH | allele G rs3753396 | mutations in single copy of gene | paternal |
CFH | allele T rs1065489 | mutations in single copy of gene | paternal |
CFH | allele A rs2274700 | mutations in single copy of gene | maternal and paternal |
Lymphocyte Immunophenotyping | Immunoglobulins | [g/L] | ||
---|---|---|---|---|
Parameter | Absolute Number [103/uL] | Percentage of Lymphocytes | ||
T-cells | 0.11 [N: 1.6–6.7] | 79% | IgG | 3.09 [N: 4.53–9.16] |
B-cells | 0.0056 [N: 0.6–2.7] | 0.04% | IgA | 0.11 [N: 0.19–1.46] |
NK-cells | 0.0287 [N; 0.2–1.2] | 20.5% | IgM | 0.1 [N: 0.2–1] |
CD4 T-cells | 0.00002 [N: 1.4–5.1] | 1.2% of T-cells | ||
CD8 T-cells | 0.10 [N: 0.6–2.2] | 95.5% of T-cells |
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Bogdał, A.; Badeński, A.; Pac, M.; Wójcicka, A.; Badeńska, M.; Didyk, A.; Trembecka-Dubel, E.; Dąbrowska-Leonik, N.; Walaszczyk, M.; Matysiak, N.; et al. Atypical Hemolytic Uremic Syndrome (aHUS) and Adenosine Deaminase (ADA)-Deficient Severe Combined Immunodeficiency (SCID)—Two Diseases That Exacerbate Each Other: Case Report. Int. J. Mol. Sci. 2021, 22, 9479. https://doi.org/10.3390/ijms22179479
Bogdał A, Badeński A, Pac M, Wójcicka A, Badeńska M, Didyk A, Trembecka-Dubel E, Dąbrowska-Leonik N, Walaszczyk M, Matysiak N, et al. Atypical Hemolytic Uremic Syndrome (aHUS) and Adenosine Deaminase (ADA)-Deficient Severe Combined Immunodeficiency (SCID)—Two Diseases That Exacerbate Each Other: Case Report. International Journal of Molecular Sciences. 2021; 22(17):9479. https://doi.org/10.3390/ijms22179479
Chicago/Turabian StyleBogdał, Anna, Andrzej Badeński, Małgorzata Pac, Anna Wójcicka, Marta Badeńska, Agnieszka Didyk, Elżbieta Trembecka-Dubel, Nel Dąbrowska-Leonik, Małgorzata Walaszczyk, Natalia Matysiak, and et al. 2021. "Atypical Hemolytic Uremic Syndrome (aHUS) and Adenosine Deaminase (ADA)-Deficient Severe Combined Immunodeficiency (SCID)—Two Diseases That Exacerbate Each Other: Case Report" International Journal of Molecular Sciences 22, no. 17: 9479. https://doi.org/10.3390/ijms22179479