Highlighting Rare Disease: Spinal Muscular Atrophy (SMA) Management Considerations - Episode 4

Approach to Treatment Selection for Patients with SMA

Medical experts illustrate characteristics in the presentation of lupus nephritis.

Jorge Larranaga, MD: Lupus nephritis can present in several ways. Lupus may take up to 6 years to be diagnosed. About 35% of patients with SLE [systemic lupus erythematosus] present with evidence of lupus nephritis at the time of diagnosis, often picked up by rheumatologists or nephrologists. It varies across the country. There should be close collaborative management between both subspecialties to treat these complex patients from an autoimmune perspective. Each subspecialty has 1 goal: to improve the patient’s outcome and prevent the end-organ target damage, whether it’s kidneys or other important organs, such as myocardial, pulmonary, or liver.

The majority of the time, the nephrologist tends to see these patients in an acute setting in the hospital environment when they present with acute renal insufficiency and acute febrile disease. The rest of the majority of the patients with lupus nephritis can be seen in our offices, often with consultations.

Alvin Wells, MD, PhD: Patients with lupus can get lupus nephritis. What does that look like? The kidneys should be working like a dam. If the kidneys aren’t functioning as they should, things suddenly begin to change. When we do a urinalysis, we can see protein in the urine. Proteinuria is one of the hallmark symptoms that we see with lupus nephritis. What does proteinuria look like? I’m old enough to remember when we had those little milk cartons in school. When you blew in the straw, you’d see bubbles. That’s what you see with lupus nephritis. The urine looks bubbly or foaming. Even when you’re using the toilet, you can see those bubbles foaming on top of the water. That isn’t normal. In some patients, you can see blood, but not many patients will see that physically.

With lupus nephritis, the kidneys aren’t functioning as they should; therefore, the body retains fluid. Sometimes the primary care doctor might pick it up in a young patient of color who suddenly has some lower extremity edema—fluid in the legs—that shouldn’t be there. That should prompt that primary care physician to think that this patient needs to be screened for lupus.

I like to think that primary care doctors are the gatekeepers in getting those patients to a rheumatologist sooner rather than later. As a rheumatologist, I then work with my nephrologist, the kidney specialist, to make that diagnosis and confirm it by way of doing a kidney biopsy. That involves a patient lying on the table, and we numb the skin and go in with a small needle to take a biopsy of the kidney so we can look underneath with a microscope and see which of the 6 types of kidney diseases is causing the lupus nephritis. Things like edema, proteinuria, and weight gain because of the edema can trigger the patient to see a specialist, such as a rheumatologist.

Transcript edited for clarity.