Soliris resolves digestive disease in girl with aHUS: Report
PLE, aHUS-related kidney disease both abated after treatment
A girl in China had atypical hemolytic uremic syndrome (aHUS) and accompanying protein-losing enteropathy (PLE), a condition in which there is an excessive loss of proteins through the gastrointestinal tract. Treatment with Soliris (eculizumab) resolved both her aHUS-related kidney disease and PLE, according to a report.
“Our case illustrates that PLE is an accompanying symptom of aHUS and [Soliris] can improve both PLE and kidney function,” the researchers wrote.
The case was described in the report, “Protein-losing enteropathy as a new phenotype in atypical hemolytic uremic syndrome caused by CD46 gene mutation,” published in Pediatric Nephrology.
aHUS is a rare disorder characterized by the formation of blood clots inside small blood vessels that can damage internal organs, especially the kidneys. PLE, which is marked by digestive upset accompanied by unusually low levels of certain blood proteins, has rarely been reported to accompany aHUS.
Soliris is an approved infusion therapy that’s used to manage aHUS. It acts to block a part of the immune system called the complement cascade, which is overactive in the disease. Soliris is sold by Astrazeneca, which was not involved in the report.
Plasma therapies for aHUS
Scientists in China reported the case of a girl who had been diagnosed with aHUS at age 3. Over the decade since her diagnosis, she had experienced several episodes of disease recurrence, which had been successfully managed with plasma exchange or plasma infusion — therapies that replace or provide plasma, the non-cellular portion of blood.
Just over a year after her diagnosis, she began experiencing persistent digestive issues, including nausea, vomiting, abdominal pain, diarrhea, and swelling. At the same time, blood tests revealed she had low levels of albumin and immunoglobulins
When the girl was 15, she experienced a recurrence of aHUS that led to severe kidney damage, despite attempts to control the disease with plasma infusion and plasma exchange. Her PLE was continuing to cause problems, making it difficult for her to put on weight. She also started to experience severe headaches.
After several months of supportive treatment, including dialysis, without any obvious improvement, the girl was started on Soliris, which had only just been approved in China.
After several months on the therapy, her kidney function notably improved — and at the same time, her PLE eased considerably, with albumin levels returning to a normal range and digestive symptoms clearing up, allowing her to gain a substantial amount of weight. Her headaches also eased following Soliris treatment.
Most people with aHUS have an underlying mutation in a gene that helps regulate the activity of the complement cascade. Genetic testing revealed the girl had a mutation in the CD46 gene, and tests conducted in her blood cells showed the complement-regulating protein encoded by this gene was virtually absent.
Researchers noted that, while there have previously been scattered reports of PLE co-occurring with aHUS, this is the first documented case of PLE occurring with aHUS in a patient with a mutation in this particular gene.
“Our case expands the phenotype [manifestations] of CD46 gene-related aHUS and provides evidence of the efficiency of [Soliris] in the treatment of chronic kidney failure in patients with aHUS,” the researchers wrote.
About the Author
