Tőlünk nyugatabbra, pontosabban Kanadában a multidiszciplináris vizitek következő lépcsőjeként a család bevonásával kísérleteznek, sőt vizsgálják is.Érdemes beleolvasni a cikkbe és a supplementary meterialba, a hazaihoz képest egész más vizit körvonalazódik :) Összefoglalásképp azt állapítják meg, hogy a vizit hossza nőtt (16 vs 20 perc), de nem ment a minőség, az oktatás vagy érzékenyebb dolgok megbeszélésének kárára. Számokban nem mérhető észrevételeik is vannak, jórészt pozitívak.Egyszer megnéznék egy ilyet.
Thank you Dr. Cho for presenting a case for us today AND being our expert discussant! This was a case of a previously-healthy young man who p/w LE edema, found to have nephrotic range proteinuria, and initial renal biopsy concerning for FSGS. Given concern for congenital FSGS, genetic sequencing was ordered which revealed compound heterozygous mutations for this disease (a different mutation on each chromosome!).
Pearls from this morning
- GFR <20, will begin building time on the renal transplant waitlist and when you should start discussing dialysis. GFR 10-12 is typically when patients will need dialysis.
- Patients with proteinuria are hypercoagulable. Usually patients don’t need primary prophylaxis, but this is controversial. If a clot detected they should be started on anticoagulation as long as they are still making urine and having proteinuria
- For nonvalvular Afib in ESRD patients, we now recognize that the risk of bleeding is higher than clotting so many nephrologists are taking these patients off of AC
And now a review of nephrotic syndrome! Clinical features of nephrotic syndrome include the following:
- Proteinuria: Urine protein >3.5 g/24hr
- Hypoalbuminemia bc urinary loss of albumin; increased Na absorption in the distal nephron which causes edema
- Hyperlipidemia bc increased hepatic synthesis of apolipoprotein in response to low plasma oncotic pressure
- Urinary loss of other proteins: Clotting factors (hypercoagulability), immunoglobulins (increased risk of infection), thyroxin binding protein (low thyroxine), transferrin (iron-deficiency anemia)
There are both primary (idiopathic) and secondary causes of nephrotic syndrome:
- Minimal Change Glomerulopathy (MCG, also known as Minimal Change Disease)
- Most common cause of nephrotic syndrome in children, less common in adults. May be associated with atopic disease, mononucleosis, Hogkin’s lymphoma, medications (NSAIDs, interferon, lithium)
- Treatment: Steroids 4-8wks, good prognosis. Can progress to FSGS
- Focal Segmental Glomerulosclerosis (FSGS)
- Most common cause of nephrotic syndrome in African-American adults. May results from genetic mutations in podocyte proteins, may be idiopathic, or may be secondary to another process (HTN, DM, HIV, drugs)
- Treatment: Steroids or calcineuin inhibitors – 40-60% have remission, others have refractory disease. FSGS recurs in the transplanted kidney in up to 30% of cases! As Dr. Cho shared today, this is thought to be due to some soluble factor that has yet to be identified. Plasmapheresis can be utilized to remove this soluble factor with some benefit to prevent recurrence.
- Membranous Glomerulopthy (MG)
- Most common cause of nephrotic syndrome in white adults. Can be idiopathic (often associated with anti-phospholipase A2 receptor antibodies) or can be associated with infections (HepB, HepC, syphilis, malaria), drugs (gold, captopril, penicillin), SLE, malignancy (lymphoma)
- Higher propensity for thromboembolic events (particularly renal vein thrombosis)
- Treatment: Up to 1/3 of patients with idiopathic MG remit spontaneously in 6-12mo. If persistent, consider steroids with cyclophosphamide or calcineurin inhibitors.
- Other secondary etiologies:
- Diabetes: Screen your diabetic patients for proteinuria!! Glycemic control slows progression
- Amyloid Associated with multiple myeloma, TB, RA
- HIV: Proteinuria, edema, hematuria. Resembles FSGS. Tx: Prednisone, ACEi, antiretroviral therapy
- Other: SLE, Wegener’s, PAN, cyroglobulinemia, drugs (metals, NSAIDs, captopril, penicillamine), infxn, malignant HTN