Abstract: SA-PO365
Hypocupremia: Cause or Effect of Nephrotic Syndrome?
Session Information
- Genetic and Diagnostic Trainee Case Reports
November 09, 2019 | Location: Exhibit Hall, Walter E. Washington Convention Center
Abstract Time: 10:00 AM - 12:00 PM
Category: Trainee Case Report
- 1204 Podocyte Biology
Authors
- Al sanani, Ahlim, Marshall University SOM, Huntington, West Virginia, United States
- Surindran, Sheena, Marshall University SOM, Huntington, West Virginia, United States
Introduction
Nephrotic syndrome is well known to cause urinary loss of several factors including trace elements. Conversely, a rare association of copper deficiency with nephrotic syndrome ( NS) has been reported in the literature with possible improvement in NS with correction of deficiency. Here we report an unusual presentation of Focal Segmental Glomerulosclerosis (FSGS) with worsening peripheral neuropathy and bicytopenia.
Case Description
A 57- year- old Caucasian female with history of hypertension, lower extremity edema and peripheral neuropathy of unknown etiology for several months admitted to the hospital for work up after outpatient testing revealed neutropenia and severe anemia. Hemoglobin on admission was 7.5g/dl (baseline hemoglobin of 12g/dl 6 months prior), WBC count of 1.5 x 109/L with absolute neutrophil count (ANC) of 0.4 x 109/L. Physical exam was unremarkable except for palor and sensory neuropathy lower extremities. Initial work up for bicytopenia was negative for evidence of hemolysis. Bone marrow biopsy showed megaloblastoid appearance. As part of megaloblastic anemia work up, levels of vitamin B12, folate, and zinc were within normal limits. However, serum Copper level was extremely low at 8 microgram/dl (72-166 microgm/dL). Urinalysis on admission with a bland urine and more than 300 mg/dl protinuria. Spot urine protein to creatinine ratio (UPC) of 14g/g, 24-hour urine protein excretion of 9 gram. Serum creatinine 0.5 mg/dl, serum albumin of 1.6 g/dl, and Triglyceride 232 mg/dl. Work up for NS included negative Hepatitis A, B and C panel, HIV, Syphilis T. Palladium antibodies, ANA, and Normal Complements levels. Copper gluconate supplement resulted in normalization of her anemia and leukopenia. Proteinuria improved from 9 grams to 6.8 grams after normalization of copper levels. A random kidney biopsy showed FSGS. Prednisone was started at 1 mg/kg daily with improvement in UPC ratio to 2.4g/g from 6.8g/g and serum albumin to 3.2 g/dl from 1.6g/dl at 12 weeks.
Discussion
FSGS is a diverse syndrome from several causes- some known and others unknown. There has been reports of urinary copper excretion correlated with urinary protein excretion in animal models. In our patient, severe copper deficiency likely explained sensory neuropathy and bicytopenia. It is open to debate weather NS started initially with urinary loss of copper leading to deficiency or copper deficiency exacerbated FSGS.