# Allogeneic hematopoietic stem cell transplantation for Shwachman-Diamond syndrome: a report of three cases and literature review

## TL;DR

This paper reports three cases of Shwachman-Diamond syndrome patients undergoing stem cell transplants and reviews their clinical outcomes and genetic features.

## Contribution

The study provides new clinical insights into allo-HSCT outcomes in SDS patients and highlights SBDS gene mutations.

## Key findings

- All three patients had SBDS:c.258+2T>C splice site heterozygous mutations.
- Two patients experienced transplant complications, while one achieved normal blood counts post-transplant.
- Findings suggest variable outcomes with allo-HSCT in SDS, emphasizing the need for careful patient selection.

## Abstract

研究报告了在浙江大学医学院附属第一医院接受异基因造血干细胞移植（allo-HSCT）的3例Shwachman-Diamond综合征（SDS）患者，并结合相关文献资料总结SDS的临床表现和基因突变特征，探讨allo-HSCT对此类患者的疗效及移植时机。3例SDS患者均为男性，移植年龄分别为32、33、32岁。3例患者均为幼年发病，例1以贫血为首发临床表现，后逐渐进展为全血细胞减少；例2、3均以全血细胞减少为首发临床表现。例1、3有智力障碍，例3有胰腺脂肪化及慢性胰腺炎表现。3例患者均身材矮小。3例患者均检出SBDS:c.258+2T>C剪切位点杂合突变。3例患者的家系成员均无SDS临床表现。3例患者均采用减低剂量预处理方案（氟达拉滨+白消安+司莫司汀+兔抗人胸腺细胞免疫球蛋白）。例1、例2行单倍体造血干细胞移植，例3行无关供者造血干细胞移植。例1移植前诊断骨髓增生异常综合征转化急性髓系白血病，移植后早期复发并死亡；例2为继发性植入不良，血小板输注依赖；例3移植后脱离药物维持治疗，血常规正常。