13 Successful sequential haploidentical maternal haematopoietic stem cell and kidney transplantation for Schimke immuno-osseous dysplasia
Bibliographic record
Abstract
Schimke immuno-osseous dysplasia (SIOD) is a rare autosomal recessive disease caused by homozygous SMARCAL1 gene mutation leading to focal segmental glomerulosclerosis (FSGS), immunodeficiency and disproportionate short stature. The quality and quantity of life improvement relies on management of end-stage kidney disease (ESKD) and prevention of possibly fatal opportunistic infections caused by T-cell deficiency.A five-year-old girl presented with steroid resistant nephrotic syndrome, dysmorphic features and short stature and had genetic confirmation of SIOD. In the year following her diagnosis, she reached ESKD and commenced haemodialysis (HD). The possibility of proceeding with maternal stem cell then kidney transplant from the same haploidentical donor was accepted by the hospital’s ethic committee. She underwent conditioning treatment with pharmacokinetic adjusted chemotherapy followed by successful engraftment of the αβ T-cell– and CD19 B-cell–depleted haematopoietic stem cell transplantation (HSCT) at seven-years-old. She was switched from HD to continuous veno-venous haemofiltration (CVVH) for 24 days to sustain strict fluid control as chemotherapy and nutrition were given intravenously. She developed mucositis and mild skin graft versus host disease which resolved at discharge 40 days after conditioning had begun.The 175-day period between HSCT and living-related kidney transplantation (LRKT) was uneventful. She underwent LRKT with no human leukocyte antigen (HLA) mismatch, no induction or anti-proliferative agents and low trough tacrolimus levels. She recovered normal kidney function five days post-transplant and remains stable with a median eGFR of 125 ml/min/1.73m2 with discontinuation of all immunosuppressive therapy since then. Her infectious prophylaxis regimen included oral letermovir, aciclovir, co-trimoxazole and itraconazole.Haploidentical HSCT prior to LRKT is a high-risk intervention which could improve life expectancy in patients with SIOD. To our knowledge, we are the first team to demonstrate the success of the Stanford protocol in a paediatric recipient receiving CVVH during HSCT conditioning treatment. This intervention led to a successful LRKT with minimal immunosuppression, which was the first case performed in our centre.Acknowledgements for funding or support C. Laroche received funds from Sainte-Justine University Hospital, Montreal, to carry out her work at GOSH
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How this classification was reachedexpand
Full frame machine prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. The Gemma side is a direct model label for every work in the frame, read from the title-only record. The Codex side is a classifier learned from the 10,348 direct Codex labels and calibrated to design-weighted sample rates; fields without enough sample support carry no Codex call. Candidate is the union of the two sides; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels.
Distilled classifier scores by category (both heads)
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.000 | 0.000 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.000 | 0.000 |
| Science and technology studies | 0.001 | 0.000 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.001 | 0.001 |
| Insufficient payload (model declined to judge) | 0.001 | 0.000 |
Machine scores (provisional)
The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.
Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.
score_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from itClassification
machine, unvalidatedMachine predicted; a candidate call from one source (direct Gemma or distilled Codex), not a consensus.
How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".