When you hear the unfamiliar term "Shwachman-Diamond Syndrome (SDS)", please take a deep breath—although its global incidence is only about 1/100,000 [1], the Hematology-Oncology Department of Beijing Jingdu Children's Hospital has treated nearly 80 SDS children under the leadership of Doctors Chen Jiao and Sun Yuan, and helped 20 of them regain new life through hematopoietic stem cell transplantation.
Core Issues:
1. 90% of children have pancreatic digestive enzyme deficiency
2. 50% experience neutropenia (prone to infection, normal value >1.5×10⁹/L, often <1×10⁹/L in SDS children)
3. 30% may develop into MDS-leukemia
Hopeful Data:
4. HSCT survival rate at Beijing Jingdu Children's Hospital exceeds 90% (international average: 70%)
"Many children were misdiagnosed with ordinary diarrhea or malnutrition," recalled Doctor Chen Jiao. Her team has established a "Three-Step Precision Diagnosis Method":
1. Symptom Screening: Repeated diarrhea + blood cell reduction + skeletal abnormalities → high suspicion
2. Genetic Testing: Mainly targets the SBDS gene
3. Bone Marrow Evaluation: Differentiates disease stage (benign or malignant) and hematopoietic capacity
Beijing Jingdu Children's Hospital has summarized nearly 100 cases of treatment experience and published them in renowned medical journals.
1. Chen Jiao, et al. Allogeneic Hematopoietic Stem Cell Transplantation for Shwachman-Diamond Syndrome: 4 Cases and Literature Review. Journal of Pediatric Blood and Cancer, June 2023.
2. Chen Jiao, et al. Allogeneic Hematopoietic Stem Cell Transplantation in the Treatment of Shwachman-Diamond Syndrome: A Report of 19 Pediatric Cases from a Single Center. 2025 EBMT Conference and EHA Conference Postor.
3. Chen Jiao. Clinical Characteristics of 16 Cases of Shwachman-Diamond Syndrome and Efficacy Analysis of Hematopoietic Stem Cell Transplantation. Speech at the 28th National Pediatric Academic Conference of the Chinese Medical Association, 2023.
4. Chen Jiao. Clinical Characteristics and Hematopoietic Stem Cell Transplantation Prognosis Analysis of 51 Cases of Shwachman-Diamond Syndrome. Speech at the 29th National Pediatric Academic Conference of the Chinese Medical Association, 2024.
5. Chen Jiao. Non-Related Cord Blood Transplantation for Shwachman-Diamond Syndrome: 3 Cases. Speech at the 10th Cord Blood Conference, 2023.
Jingdu Case
In February 2024, Xiaorong, just 1.5 months old, suddenly developed a high fever, and her family rushed her to the hospital. The blood routine result was like a heavy blow: severe anemia, hemoglobin only 68g/L (normal newborn reference value: 145-180g/L). During the Spring Festival, Xiaorong returned to her hometown for vaccination and had another high fever; upon recheck, her hemoglobin had dropped to 52g/L. The local doctor solemnly suggested: "Closely observe and review regularly."
In the following days, Xiaorong was in and out of the hospital repeatedly, with fever at least once a month becoming the norm. Every fingertip blood draw and intravenous puncture, the child's heart-wrenching cries stung the mother like steel needles. When the doctor proposed a bone marrow puncture, the young mother's hand holding the examination form trembled violently, tears welling in her eyes.
In June 2024, the 6-month-old Xiaorong was hospitalized for the 7th time due to persistent high fever. This time, the doctor conducted a full set of examinations including bone marrow puncture and genetic testing. After a long wait, the genetic test report gave the final diagnosis: Shwachman-Diamond Syndrome (SDS), a rare congenital bone marrow failure syndrome with an incidence of about 1/100,000, often accompanied by severe anemia, neutropenia, and pancreatic exocrine insufficiency.
After admission, Director Chen's team quickly developed a treatment plan. Considering that the key to SDS treatment lies in hematopoietic stem cell transplantation, and to protect Xiaorong's future fertility, the medical team decided to perform ovarian tissue cryopreservation on the 9-month-old girl before transplantation—child fertility preservation is still a cutting-edge technology in international pediatrics.
Fortunately, the China Marrow Donor Program soon brought good news: a HLA (Human Leukocyte Antigen) high-resolution matched unrelated donor was found. In October 2024, after strict pretreatment, Xiaorong received hematopoietic stem cell transplantation in a sterile cabin. On day 12 post-transplant, neutrophils successfully engrafted; by day 28, platelets and hemoglobin were steadily increasing. After 98 days of meticulous treatment and care, Xiaorong was discharged smoothly.
Now, the nearly 2-year-old Xiaorong has long gotten rid of the torture of illness. This once fragile little life, under the full rescue of the medical team, selfless dedication of volunteers, and perseverance of her family, has completed a miracle from critical condition to new life. Her bright big eyes sparkle with curiosity about the world, and her clear laughter conveys the tenacity and hope of life.
Transplant Timing: Intervene immediately when neutrophils <0.5×10⁹/L or MDS/AML occurs
Fertility Protection: Beijing Jingdu Children's Hospital has frozen ovarian tissue for 50 girls (youngest age: 7 months) to ensure they can enjoy the happiness of being mothers like other women in the future.
Needs Transplantation:
5. NE <0.5×10⁹/L, transfusion-dependent, or TP53 positive, with MDS/leukemia signs
Can Observe:
6. In good condition, not meeting the above transplant criteriaDoctor Chen Jiao suggests: Children should undergo regular bone marrow aspiration monitoring, and patients with transplant indications have the best effect when transplanted in the benign stage, without active infection, and in good physical condition.
Data from Beijing Jingdu Children's Hospital:
7. Implantation success rate: 100%
8. Long-term survival rate after transplantation: >90%
9. Average hospital stay: 60 days
10. Cost: approximately 300,000-400,000 yuan (partially covered by medical insurance)
Nutrition Management:
11. Supplement pancreatic enzymes with each meal
12. Daily supplementation of vitamins A, D, E, K
13. Calcium supplementation
Infection Prevention:
14. Avoid crowded places, wash hands frequently, and eat clean food
15. Seek medical attention immediately if body temperature >38℃
Among currently treated children:
16. 85% have normal intelligence
17. 15% have varying degrees of delay (can be improved through rehabilitation training)
18. If both parents are carriers, the second child has a 25% probability of being affected
19. Third-generation 试管婴儿 (IVF) can avoid this; for natural pregnancy, amniocentesis for SBDS gene testing is recommended as early as the second trimester
20. Gene editing therapy (in animal experiment stage)
Case 1: Seven-year-old Yangyang has had stable neutrophils at 1.2×10⁹/L for 3 years after transplantation. Dean Sun Yuan smiled and said: "He is now the soccer team captain, running faster than the doctors!"Case 2: Mother Li recorded: "6 pancreatic enzyme pills daily + regular checkups, my daughter now goes to school like other children and ranks fifth in her class."
Do Immediately: Record daily diet, stool frequency and characteristics, and temperature changes
Within 3 Days: Organize past examination sheets (blood routine, genetic reports, etc.)
Within 1 Week: Make an appointment for multidisciplinary consultation (add website consultation link)
Doctor Chen Jiao often says: "SDS is not the end of life, just a comma requiring more scientific care." At Beijing Jingdu Children's Hospital, stories from multiple families prove that early diagnosis and scientific treatment allow children to grow up normally.
(This article's data comes from Beijing Jingdu Children's Hospital's case statistics from 2015 to June 2025; references can be obtained by consulting the outpatient clinic.)
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