A rare case of an Alport syndrome patient with end-stage kidney disease and an inherited tumor-causing growth disorder — complicating his eligibility for a kidney transplant was reported.
The patient was diagnosed with Alport syndrome at age 10, confirmed by kidney tissue and genetic analyses. His kidneys continued to deteriorate, as determined by increasing levels of protein in the urine, which he began treatment with anangiotensin converting enzyme (ACE) inhibitor five years later.
Despite the treatment, his condition progressed and by age 32 he was diagnosed with end-stage renal disease, and began hemodialysis.
While dealing with Alport, he was also diagnosed with increased parathyroid activity due to multiple endocrine neoplasia (MEN) type 1, or MEN1. This genetic disorder promotes tissue overgrowth (neoplasia, commonly referred as tumor) in hormone-producing glands, including the parathyroids, pancreas, and pituitary gland.
By the age of 30, genetic analysis confirmed a mutation affecting the MEN gene.
One year later, he underwent surgery to remove part of the parathyroid glands. To help manage the calcium levels these glands control, he initiated treatment with 30 mg daily of Sensipar (cinacalcet). Whole-body CT scans found additional tumors affecting the pancreas, and he had surgery to treat these at 32 and then began taking insulin for secondary diabetes.
At age 36, the patient was referred to a clinical team at the University of Pisa, in Italy, to evaluate his eligibility for a kidney and possibly a pancreas transplant.
In most cases, neoplastic disease (tumors) is a barrier to a transplant. But, given the patient’s serious condition and the lack of guidelines on how to manage this rare combination of genetic diseases, the team began a detailed analysis of his eligibility and need.
After a transplant, immunosuppressive therapies are required to make sure that the body does not reject the new organ. However, these therapies may facilitate tumor growth.
Since the patient’s diabetes was under control with insulin therapy, the team ruled out the need for a pancreatic transplant.
Because the patient was undergoing hemodialysis, blood analysis of hormone levels was unreliable as a measure and imagining was used. Disease activity was seen to be under control with no detectable tissue growth and a low risk of recurrence.
The researchers noted a kidney transplant was urgent, because the patient had end-stage disease and “was on hemodialysis for 3 years, [so that] his life expectancy was reduced by 8-20%.”
These findings led the team to conclude that the benefits of kidney transplant surpassed “the risk of neuroendocrine tumor recurrence” in this patient with MEN1 and Alport syndrome.