According to a recent article, a new study where SIOD patients had a dual immune/solid organ transplant yielded positive results with patients accepting their new kidneys without rejection.

Schimke Immune-Osseous Dysplasia (SIOD)

Schimke immuno-osseous dysplasia (SIOD) is a multisystem disorder that is inherited in an autosomal recessive pattern. It usually manifests first with growth failure. Other features of the disease are generally noted in the ensuing evaluation of the growth failure or develop in the following years. According to the severity of the clinical features and the age of onset, SIOD has been divided into an infantile or severe early-onset form and a juvenile or milder late-onset form. Affected individuals with early-onset manifest severe symptoms and have a mean age of death at 9.2 years. These individuals have died from strokes, severe opportunistic infections, bone marrow failure, complications of kidney failure, congestive heart failure, and unspecified lung disease. On the other hand, those with milder disease have survived into the fifth decade if symptomatically treated. However, severity and age of onset of symptoms do not invariably predict survival as a few of those with early-onset disease have survived into the third and fourth decade.

Symptoms:

• Physical traits such as:
  • Fine hair
  • Thin upper lip
  • Broad, low nasal bridge
  • Bulbous nasal tip
  • Disproportionately short stature
  • Excessive inward curvature of the lumbar spine (lumbar lordosis)
  • Protruding abdomen
  • Hyperpigmented macules on the trunk and occasionally on the neck, face, arms and legs
• Growth and skeletal system issues
• Renal system issues
• Cardiovascular system issues
• Central nervous system issues
• Pulmonary system issues
• Hematopoietic and immune system issues
• Reproductive system issues

Causes:

SIOD is inherited in an autosomal recessive pattern. Recessive genetic disorders occur when an individual inherits an abnormal gene from each parent. If an individual receives one normal gene and one abnormal gene for the disease, the person will be a carrier for the disease, but usually will not show symptoms. The risk for two carrier parents to both pass the abnormal gene and, therefore, have an affected child is 25% with each pregnancy. The risk to have a child who is a carrier, like the parents, is 50% with each pregnancy. The chance for a child to receive normal genes from both parents is 25%. The risk is the same for males and females.

Kidney Transplants

Kidney transplants come with a lot of prep work and aftercare. Before the kidney transplant even occurs, the request for the transplant can take years. Furthermore, the patient will undergo an extensive medical review before being approved for their new kidney. The aftercare is also extensive and occasionally grueling. After a kidney transplant, a patient will require numerous follow-up appointments, anti-rejection medications for the rest of their lives, and extensive care. The anti-rejection medications patients are required to take can even cause issues such as heightened blood pressure, cancer, and infection. In addition, many patients need another kidney transplant in 10 to 20 years. All of this aftercare can hinder a patient’s everyday life. 

The Study:

The study, which was done at Stanford University, was done with the goal of achieving immune tolerance for transplant patients. It was made up of three pediatric patients, each of whom had Schimke immune-osseous dysplasia (SIOD), which typically leads to kidney failure.

All three patients underwent dual immune/solid organ kidney transplants. Each patient received a new kidney from one of their parents and stem cells. In every case, the patients were able to recognize the kidney without any signs of rejection. Moreover, the patients were still living without any kidney or immune system issues three years later.

The parents who donated their kidney for their child were grateful to have been able to be a part of saving their child’s life. Their sacrifice also could aid in creating a new standard of care for transplants for SIOD patients.

The results of this study could change how SIOD patients are cared for, and could lead to kidneys lasting longer in transplant patients. Research will continue on this potential breakthrough, and it could extend beyond just SIOD patients to all transplant patients.