A Rare De Novo Mutation in the TRIM8 Gene in a 17-Year-Old Boy with Steroid-Resistant Nephrotic Syndrome: Case Report
Abstract
:1. Introduction
2. Case Report
2.1. Renal Manifestations
2.2. Neurological Manifestations
2.3. Psychological Evaluation
2.4. Immunological Evaluation
2.5. Anamnesis Vitae
3. Whole-Exome Sequencing
4. Discussion
5. Conclusions
Author Contributions
Funding
Institutional Review Board Statement
Informed Consent Statement
Data Availability Statement
Conflicts of Interest
References
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Parameter | Percentage 1st Assessment | Percentage 2nd Assessment | Absolute Number (Cells/μL) 1st Assessment | Absolute Number (Cells/μL) 2nd Assessment | Normal Percentage Value | Normal Absolute Number (Cells/μL) | |
---|---|---|---|---|---|---|---|
Lymphocytes | 44 | 51.1 | 27.4–56.0 | ||||
Monocytes | 7.8 | 7.3 | 6.1–10.5 | ||||
Granulocytes | 48.3 | 41.6 | 36.2–64.9 | ||||
Lymphocytes | CD45+/SSC low | 2748 | 3050 | 1500–3900 | |||
T Lymphocytes | CD3+/CD45+ | 81.5 | 78.1 | 2239 | 2381 | 52.9–79.1 | 1000–2700 |
Cytotoxic T cells | CD3+CD8+/CD45+ | 32.6 | 31.1 | 895 | 949 | 18.2–33.2 | 300–1100 |
Helper T cells | CD3+CD4+/CD45+ | 39.4 | 35.2 | 1083 | 1072 | 27.4–54.3 | 500–1600 |
Helper/cytotoxic T cells | CD3+CD4+CD8+/CD45+ | 1.4 | 0.4 | 37 | 13 | 0.5–1.8 | 10–50 |
NK cells | CD16+56+CD3-/CD45+ | 6.3 | 6.1 | 173 | 187 | 5.2–28.6 | 100–830 |
T cells with NK phenotype | CD3+CD16+CD56+/CD45+ | 4.9 | 4.3 | 134 | 132 | 1.2–6.9 | 27–164 |
B Lymphocytes | CD19+/CD45+ | 10.67 | 14.54 | 293 | 443 | 9.4–22.8 | 200–600 |
Helper/cytotoxic T-cell ratio | CD4+/CD8+ | 1.2 | 1.1 | 1.1–2.7 | |||
Helper memory + effector memory lymphocytes | CD4+CD45RO+/CD3+CD4+ | 50.1 | Not done | 543 | Not done | 27.2–62.0 | 200–570 |
Helper naive + activated lymphocytes | CD4+CD45RA+/CD3+CD4+ | 50.5 | Not done | 547 | Not done | 31.1–66.3 | 180–880 |
Cytotoxic memory + effector memory lymphocytes | CD8+CD45RO+/CD3+CD8+ | 22.4 | Not done | 200 | Not done | 15.9–46.4 | 80–300 |
Cytotoxic naive + activated lymphocytes | CD8+CD45RA+/CD3+CD8+ | 81.1 | Not done | 726 | Not done | 44.1–77.1 | 170–730 |
Helper T cells | |||||||
Recent thymic emigrants | CD31+CD45RA+/CD3+CD4+ | 42.6 | Not done | 461 | Not done | >30 | |
Central naive helper T cells | CD31-CD45RA+/CD3+CD4+ | 5.2 | Not done | 57 | Not done | ||
Naive helper T cells | CD27+CD45RO-/CD3+CD4+ | 49.5 | Not done | 536 | Not done | 49.3–72.0 | |
Memory helper T cells | CD27+CD45RO+/CD3+CD4+ | 40.6 | Not done | 440 | Not done | 24.5–44.4 | |
Effector memory helper T cells | CD27-CD45RO+/CD3+CD4+ | 9.5 | Not done | 103 | Not done | 2.1–5.5 | |
Effector helper T cells | CD27-CD45RO-/CD3+CD4+ | 0.3 | Not done | 4 | Not done | 0.1–8.7 | |
Regulatory helper T cells | CD127-CD25+/CD3+CD4+ | 6.5 | Not done | 70 | Not done | 2.3–7.1 | |
Cytotoxic T cells | |||||||
Naive cytotoxic T cells | CD27+CD45RO-/CD3+CD8+ | 69 | Not done | 617 | Not done | 62.3–86.3 | |
Memory cytotoxic T cells | CD27+CD45RO+/CD3+CD8+ | 16.8 | Not done | 150 | Not done | 12.2–27.2 | |
Effector memory cytotoxic T cells | CD27-CD45RO+/CD3+CD8+ | 5.6 | Not done | 50 | Not done | 0.8–6.2 | |
Effector cytotoxic T cells | CD27-CD45RO-/CD3+CD8+ | 8.62 | Not done | 77 | Not done | 0.8–13.2 | |
Lymphocytes B | |||||||
Transitional B lymphocytes | CD38+IgM++/CD19+ | 10.49 | 6.31 | 31 | 28 | 1.4–13.0 | 10–60 |
Immature B lymphocytes | CD19+CD21low/limfocyty | 1.11 | 0.74 | 0.6–1.9 | |||
Immature B lymphocytes | CD21low/CD19+ | 10.4 | 5.09 | 2.9–13.2 | 10–50 | ||
Mature B lymphocytes | CD27-/CD19+ | 74 | 78.91 | 217 | 350 | 52.1–86.7 | 110–450 |
Naive mature B lymphocytes | IgD+cd27-/CD19+ | 65.19 | 76.15 | 191 | 338 | 51.3–82.5 | 120–430 |
Memory B lymphocytes | CD27+/CD19+ | 26 | 21.09 | 76 | 94 | 13.3–47.9 | 50–200 |
Memory “non-switched” B lymphocytes (marginal zone) | CD27+IgD+/CD19+ | 18.04 | 16.04 | 53 | 71 | 4.6–18.2 | 20–70 |
Memory “switched” B lymphocytes | CD27+IgD-/CD19+ | 7.85 | 5.09 | 23 | 23 | 8.7–25.6 | 30–110 |
Memory “switched” B lymphocytes | CD27+IgD-/PBL | 0.84 | 0.74 | 1.5–4.0 | |||
IgM-only memory B lymphocytes | IgD-IgM+/CD19+IgD-CD27+ | 39.27 | 15.31 | 3.9–18.8 | |||
IgM-only memory B lymphocytes | IgD-IgM+CD27+/CD19+ | 3.08 | 0.78 | 0.4–3.1 | |||
Activated B lymphocytes | CD38lowCD21low/CD19+ | 7.94 | 2.1 | 23 | 9 | 2.7–8.7 | 10–40 |
Plasmablasts | CD38+++IgM-/CD19+ | 0.4 | 0.21 | 1 | 1 | 0.6–6.5 | 0–20 |
CD40 Ligand | |||||||
Stimulated | CD154+/CD3+CD8- | 51.5 | |||||
Stimulated | CD69+/CD3+CD4+ | 99.5 |
Gene | Variant | Proband | Mother | Father | Brother |
---|---|---|---|---|---|
GRID1 | c.2771del | Heterozygous | Excluded | Heterozygous | Heterozygous |
MAP4K5 | c.2293G>C | Heterozygous | Heterozygous | Excluded | Heterozygous |
TRIM8 | c.1200C>G | Heterozygous | Excluded | Excluded | Excluded |
IL1RAP | c.911A>G | Heterozygous | Heterozygous | Excluded | Excluded |
ARMC5 | c.49G>C | Heterozygous | Heterozygous | Excluded | Heterozygous |
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Badeńska, M.; Pac, M.; Badeński, A.; Rutkowska, K.; Czubilińska-Łada, J.; Płoski, R.; Bohynikova, N.; Szczepańska, M. A Rare De Novo Mutation in the TRIM8 Gene in a 17-Year-Old Boy with Steroid-Resistant Nephrotic Syndrome: Case Report. Int. J. Mol. Sci. 2024, 25, 4486. https://doi.org/10.3390/ijms25084486
Badeńska M, Pac M, Badeński A, Rutkowska K, Czubilińska-Łada J, Płoski R, Bohynikova N, Szczepańska M. A Rare De Novo Mutation in the TRIM8 Gene in a 17-Year-Old Boy with Steroid-Resistant Nephrotic Syndrome: Case Report. International Journal of Molecular Sciences. 2024; 25(8):4486. https://doi.org/10.3390/ijms25084486
Chicago/Turabian StyleBadeńska, Marta, Małgorzata Pac, Andrzej Badeński, Karolina Rutkowska, Justyna Czubilińska-Łada, Rafał Płoski, Nadezda Bohynikova, and Maria Szczepańska. 2024. "A Rare De Novo Mutation in the TRIM8 Gene in a 17-Year-Old Boy with Steroid-Resistant Nephrotic Syndrome: Case Report" International Journal of Molecular Sciences 25, no. 8: 4486. https://doi.org/10.3390/ijms25084486