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Spontaneous Remission Of Genetic, Apparent Primary, Fsgs Presenting With Nephrotic Syndrome Challenges Traditional Notions Of Primary Fsgs

Oo, S. Z. M. 2021Other/Unknown

Oo, S. Z. M. W. H., Freese, M. E., Holanda, D. G., & Thomas, C. P. (2021). Spontaneous remission of genetic, apparent primary, FSGS presenting with nephrotic syndrome challenges traditional notions of primary FSGS. Journal of nephrology, 34(1), 255–258. https://doi.org/10.1007/s40620-020-00837-7

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Case Details

Disease Location

Kidney

Personal Characteristics

26-year-old caucasian female

Clinical Characteristics

Referred for new-onset nephrotic syndrome (ns). She developed bilateral leg swelling followed by swelling of her arms and face. About 2 weeks into her leg swelling, she was seen by nephrology, WHO noted peripheral edema, lower serum albumin, and an elevated urine protein creatinine ratio (upc). She was started on furosemide. She underwent a kidney biopsy that showed focal and segmental glomerulosclerosis (fsgs) in 2 out of 47 glomeruli, with focal mild interstitial fibrosis and tubular atrophy, and severe diffuse foot process effacement (fpe) on em. She was started on lisinopril genetic screening showed that she had a heterozygous missense variant in transient receptor potential cation channel subfamily c member 6 (trpc6), she was diagnosed with autosomal dominant fsgs,

Remission Characteristics

Her peripheral edema improved, her proteinuria resolved, and her serum albumin normalized.

Treatment & Mechanisms

Clinical Treatment

Lisinopril, furosemide