Scientists from the Broad Institute, Cambridge, Massachusetts identified the genetic cause of UKD as mutations in the MUC1 gene.

In terms of treatment/management for medullary cystic kidney disease, at present there are no specific therapies for this disease, and there are no specific diets known to slow progression of the disease. However, management for the symptoms can be dealt with as follows: erythropoietin is used to treat anemia, and growth hormone is used when growth becomes an issue. Additionally, a renal transplant may be needed at some point.

Finally, foods that contain potassium and phosphate must be reduced

There is no single accepted treatment for WM. There is marked variation in clinical outcome due to gaps in knowledge of the disease's molecular basis. Objective response rates are high (> 80%) but complete response rates are low (0–15%). Recently, Yang et al. showed that the MYD88 L265P mutation induced activation of Bruton's tyrosine kinase, the target of the drug ibrutinib. Among previously treated patients, ibrutinib induced responses in 91% of patients, and at 2 years 69% of patients had no progression of disease and 95% were alive (Treon et al., New England Journal of Medicine 2015). Based on this study, the Food and Drug Administration approved ibrutinib for use in WM in 2015.

There are different treatment flowcharts: Treon and mSMART.

WM patients are at higher risk of developing second cancers than the general population, but it is not yet clear whether treatments are contributory.

In the absence of symptoms, many clinicians will recommend simply monitoring the patient; Waldenström himself stated "let well do" for such patients. These asymptomatic cases are now classified as two successively more pre-malignant phases, IgM monoclonal gammopathy of undetermined significance (i.e. IgM MGUS) and smoldering Waldenström's macroglobulinemia.

But on occasion, the disease can be fatal, as it was to the French president Georges Pompidou, who died in office in 1974. Mohammad Reza Shah Pahlavi, the Shah of Iran, also suffered from Waldenström's macroglobulinemia, which resulted in his ill-fated trip to the United States for therapy in 1979, leading to the Iran hostage crisis.