Vascular health checks, kidney tests urged for Alagille patients: Review
Problems common, but have no/few symptoms and can be life-threatening
Kidney and blood vessel problems are common in people with Alagille syndrome, and while these often cause few to no symptoms, they can be life-threatening. As such, it’s important to regularly monitor kidney and vascular health in Alagille patients — with routine tests at least once per year.
These are the conclusions of a new review study, “Kidney and vascular involvement in Alagille syndrome,” published in the journal Pediatric Nephrology.
According to the researchers, Alagille patients “require kidney assessment at diagnosis, long-term monitoring of kidney function and early detection of vascular complications, notably if they have undergone liver transplantation, to prevent progression of chronic kidney disease and vascular complications.”
Indeed, the researchers noted that “kidney involvement is present in 38% of patients” with Alagille syndrome, and added that “vascular complications account for 15% of deaths at a median age of 2.2 years.”
Kidney, blood vessel problems found to be common among patients
A rare genetic disorder, Alagille is characterized by abnormalities in embryonic development. The primary symptoms of Alagille syndrome are liver and heart defects, affecting more than 90% of patients, along with facial features and eye abnormalities.
Given that liver problems in Alagille can be serious and quickly result in liver failure and the need for a liver transplant, most research into the condition has focused mainly on how it affects the liver and how to manage liver health.
But the disease can also affect other organs, such as the kidneys and blood vessels. However, no standard guidelines have been established for how to assess and manage kidney or vascular problems in Alagille patients.
With an eye toward providing guidance on these issues, a quintet of scientists in France conducted a review of the scientific literature. Their goal was to summarize what is currently known about kidney and blood vessel involvement in Alagille.
Available evidence indicated that kidney involvement is by no means rare in people with Alagille, with more than 1 in 3 patients reported to have some kidney problems. These issues are most commonly abnormalities in the structural development of the kidneys and the urinary tract.
As many as 1 in 10 patients have decreased kidney function, and about 1 in 50 may experience kidney failure — when the kidneys are no longer able to function to meet the body’s needs. Moreover, kidney failure in infants with Alagille has been reported as occurring as early as 20 days of age.
Abnormalities in blood vessels other than those in the heart also are quite common in people with Alagille, data show. Abnormal narrowing or underdevelopment of the pulmonary arteries, which carry blood from the heart through the lungs, has been reported in 76% of Alagille patients or those with mutations in the JAG1 gene, the most common cause of the disease.
The condition has also been reported to affect other blood vessels, including those in the brain and kidneys. Many patients also experience high blood pressure, or hypertension, which can increase the risk of deadly bleeding, as well as put strain on the heart and other organs.
Alagille-associated blood vessel changes don’t always cause overt health problems, but in some cases, they can be life-threatening. In fact, vascular complications are estimated to account for 15% of deaths in people with Alagille, per the data. Bleeding in the brain is a particularly common cause of deadly blood vessel complications, data show.
Kidney, vascular tests should be done at diagnosis, and at least annually
Given the serious implications of kidney and blood vessel disease in Alagille patients, the researchers proposed that kidney and vascular health be systematically monitored in this patient population.
Specifically, the researchers recommended that upon diagnosis, all patients should undergo an ultrasound of the kidneys and urinary tract to look for abnormalities that could cause problems. Blood markers of kidney health should also be checked whenever blood tests are run to assess liver health, while urine analyses should be performed at least once per year, according to the team.
“Specific attention to kidney function should be given post-liver transplantation,” the researchers wrote.
Kidney and vascular involvement are frequent in [Alagille syndrome]. … [Such problems] must be diagnosed in order to prevent [chronic kidney disease] progression and kidney [consequences], [and] also to reduce the risk of vascular complications.
Given that both kidney and blood vessel problems can contribute to hypertension, the team recommended that blood pressure be monitored at every doctor’s visit, and in both arms at least once per year. If hypertension occurs, it should be carefully managed to minimize the risk of bleeds, the team recommended.
Imaging tests to look for blood vessel problems in the brain may also be warranted for some Alagille patients, according to the researchers. However, there isn’t currently enough data for suggestions to be made about what type of tests are optimal or how frequently they should be performed.
“Kidney and vascular involvement are frequent in [Alagille syndrome],” the team wrote. While often associated with no to few symptoms, these problems “must be diagnosed in order to prevent [chronic kidney disease] progression and kidney [consequences], [and] also to reduce the risk of vascular complications.”
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