Susan Huang

Susan Huang

Researchers followed 22 survivors of a rare blood disorder called immune-mediated thrombotic thrombocytopenic purpura for one year to understand why many experience long-term memory and thinking problems. The study found that even after the disease was in remission, patients had persistent leakage in the blood-brain barrier and progressive loss of brain volume and nerve fibre integrity. These ongoing vascular issues were linked to lower cognitive scores, suggesting that brain injury in this condition continues to evolve long after the initial medical emergency has passed.

Susan Huang

Researchers studied children with X-linked hypophosphatemic rickets who switched from conventional treatment to a newer medication called burosumab to see how it affected their kidney health. While the medication successfully improved phosphate levels in the blood, some children developed high levels of calcium in their urine or new calcium deposits in the kidneys. These findings suggest that children using this therapy require regular monitoring of their urine and kidney ultrasounds to detect these potential complications early.

Susan Huang

Researchers described two cases of Kimura disease, a rare inflammatory condition causing skin swelling and lymph node enlargement, successfully treated with the immunosuppressant medication mycophenolate mofetil. In both instances, including one patient who also had the kidney condition membranous nephropathy, the medication led to a significant reduction in symptoms and allowed for a decrease in steroid use. These findings suggest that mycophenolate mofetil may be an effective and well-tolerated option for managing this rare disease when other treatments are insufficient.

Louise MoistDervla ConnaughtonMatthew WeirSusan HuangAndrew HouseLakshman GunaratnamArsh JainAmit GargAndrea CowanPavel RoshanovPeter Blake

In a study of 125 adults aged 50 and older with chronic kidney disease, researchers found that genetic testing identified a specific cause of disease in 38% of patients. The highest success rate for diagnosis occurred in those aged 50 to 54, with various forms of glomerular disease being the most common findings. These genetic results led to changes in medical treatment and clinical management, suggesting that age alone should not be a barrier to accessing genetic testing for kidney disease.

Susan Huang

This study examined long-term brain health in adults with a rare condition called complement-mediated thrombotic microangiopathy who were in remission and receiving treatment to block the complement system. Researchers used magnetic resonance imaging and specialized testing to find that these patients had more white matter abnormalities and higher rates of depression, memory issues, and concentration difficulties compared to healthy individuals. These neurological and cognitive changes persisted for at least one year, suggesting that the condition may have lasting effects on the brain even when the primary disease is stable.

Susan HuangArsh Jain

In this phase 2 clinical trial, researchers tested whether ravulizumab, a medication that blocks a specific part of the immune system called the complement system, could help adults with IgA nephropathy. Patients receiving ravulizumab experienced a 30% greater reduction in protein leakage in their urine compared to those receiving a placebo after six months of treatment. The medication was well tolerated, with safety results similar to the placebo group, and showed potential in helping to stabilize kidney function.

Dervla ConnaughtonMatthew WeirSusan HuangAndrew HouseLakshman GunaratnamPavel Roshanov

Researchers analyzed genetic data from patients with chronic kidney disease to investigate why many develop severe hardening of the arteries, known as vascular calcification. They identified specific mutations in the ABCC6 gene in several families, suggesting that inherited genetic factors may directly contribute to this cardiovascular complication. Identifying these genetic causes early could eventually help doctors use targeted therapies to prevent vascular damage and reduce the risk of death in kidney disease patients.

Susan Huang

Researchers studied whether adults with X-linked hypophosphatemia, a rare genetic condition causing high levels of a hormone called fibroblast growth factor 23, have an increased risk of heart disease or high blood pressure. In a group of twenty-two patients, the study found that most had normal heart structure and blood pressure, with no signs of stiffening in the arteries. These findings suggest that the elevated hormone levels associated with this specific genetic condition may not carry the same cardiovascular risks as seen in patients with chronic kidney disease.