肾脏研究|概述
The research program within Boston Children's Hospital's肾脏科conducts both basic and clinical research in transplantation biology, kidney development, nephrotic syndrome, and autosomal recessive polycystic disease of the kidney. The heads of our key实验室还在Harvard Medical School.
认识到超过一半的孩子kidney failurehave developmental anomalies, the division has assembled a very large developmental and regenerative biology team. We also have created a pharmacogenomics group to take advantage of the remarkable breakthroughs of modern genomics and customize treatments to each child.
Current nephrology research projects
Genetic testing for nephrotic syndrome and FSGS
我们的研究人员与合作者一起确定了与分段肾小球硬化（FSGS）相关的多个遗传突变，这是一种毁灭性的形式nephrotic syndromethat is the second leading cause of kidney failure in children. Based on this research, we now offer a diagnostic test panel for nephrotic syndrome and FSGS that covers more than two dozen genes.
Our team is also using the genetic information to develop better treatments for FSGS and nephrotic syndrome. For example, a study in the lab of our division chiefFriedhelm Hildebrandt, MD，鉴定出涉及辅酶Q-10的遗传突变。由Ankana Daga, MBBS，将为肾病综合征儿童提供辅酶Q-10，以查看其是否改善了他们的疾病病程。
Understanding kidney self-repair
End-stage kidney disease often begins with injury to podocytes, highly specialized cells that intermingle with the capillaries and filter the blood, maintaining the proper water and salt balance. The lab of医学博士Jordan Kreidberg博士,已经been trying to understand how kidneys and podocytes naturally maintain themselves. The team recentlyidentified a master genetic program and a key regulator称为WT-1，它似乎可以编排Podocytes的先天伤害治疗反应。克雷德伯格（Kreidberg）和他的同事继续研究足细胞损伤中的WT1和其他遗传因素，以更好地了解维修过程，并确定由于糖尿病或高血压引起的FSG和肾衰竭的潜在治疗方法。
Improving outcomes following kidney transplantation
Dr. David Briscoe和教师移植研究计划are conducting a variety of studies to improve the longevity of transplanted organs and better identify patients at risk for complications. TheBriscoe Labstudies the processes of inflammation resolution and the discovery of receptor ligand interactions that both promote and inhibit alloimmunity and the rejection process. Research studies are in three broad areas including:
- how events within the intragraft microenvironment promote, sustain or inhibit T cell activation and allorecognition
- T细胞的精选群体中的离散信号和分子相互作用如何促进免疫调节
- the application of these discoveries into the development of biomarkers and new therapeutics to transform clinical care and improve outcomes following transplantation
Soumitro PAL博士及其实验室研究的成员使用体外细胞培养模型以及复杂的鼠模型，在器官移植后，患者的癌症生长分子机制。PAL博士的研究还旨在鉴定分子靶标和新型肾脏炎症和肾癌治疗方法。
Dr. Johannes Wedeluses bioinformatic tools and sophisticated immunological techniques to study the identification of novel cell types and signaling pathways that regulate T cell-dependent immune responses following transplantation.
Kidney stone genetics and prevention
Recent research by Friedhelm Hildebrandt, MD, found that a surprising 21 percent of children with肾结石have a causative single-gene mutation. Knowing the mutation can often change therapy. For example, certain stone-causing mutations have been associated with other treatable medical complications that clinicians can screen for, such as eye problems or hearing loss.
Michelle Baum, MD，联合导演Kidney Stone Program, hopes that care for kidney stone disease will one day be focused on preventing stone formation, rather dealing with its consequences. She is helping to launch clinical trials of new medications to treat primary hyperoxaluria (PH), one of the rarest, most devastating causes of kidney stones as well as other organ complications. For many years, PH could only be treated by kidney-liver transplant. Dr. Baum is a primary investigator in amulticenter clinical studythat aims to correct the genetic error in metabolism that causes PH using RNA inhibitor therapy.