Long-term clinicopathologic observation in a case of steroid-resistant nephrotic syndrome caused by a novel Crumbs homolog 2 mutation

Nephrology
Shojiro WatanabeHiroshi Tanaka

Abstract

Recent advances in high-throughput sequencing for clinical genetic testing have revealed novel disease-causing genes, such as Crumbs homolog 2 (CRB2) for early-onset steroid-resistant nephrotic syndrome (SRNS). We report the long-term clinicopathologic observation of a Japanese female patient with SRNS caused by a newly identified compound heterozygous mutation of CRB2 (p.Arg628Cys and p.Gly839Trp located in the 10th and 11th epidermal growth factor-like domains, respectively). She was initially examined during a mass urinary screening for 3.5-year-old children in Japan. Although she developed long-standing SRNS without any extrarenal clinical signs thereafter, her renal function was well-preserved over the next 17 years. In total, six sequential renal biopsy specimens revealed histologic alterations ranging from minor glomerular abnormalities to advanced focal segmental glomerulosclerosis (FSGS). A genetic analysis for SRNS performed at 19 years of age revealed a newly identified compound heterozygous mutation in CRB2. Glomerular CRB2 immunoreactivity in biopsy specimens from the patient was scanty, whereas intense expression was observed in those from patients with idiopathic FSGS or in controls. To our knowledge, this is the...Continue Reading

References

Feb 24, 2001·The Tohoku Journal of Experimental Medicine·H TanakaN Monma
Nov 26, 2011·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Shreya KangoviKevin E Meyers
Aug 21, 2013·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·William WongTonya Kara
Jan 6, 2015·American Journal of Human Genetics·Lwaki EbarasiArindam Majumdar
Sep 4, 2015·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Aya InabaMasataka Honda
Nov 4, 2016·Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association·Svjetlana LovricFriedhelm Hildebrandt
Mar 2, 2016·Clinical Genetics·R JaronE Levy-Lahad
Mar 24, 2016·European Journal of Human Genetics : EJHG·Ryan E LamontAnne M Slavotinek
Nov 22, 2016·Molecular Syndromology·Anne M Slavotinek
Dec 13, 2016·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Tomohiro UdagawaYutaka Harita
Nov 29, 2017·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Rebecca PrestonRachel Lennon

❮ Previous
Next ❯

Related Concepts

Related Feeds

Birth Defects

Birth defects encompass structural and functional alterations that occur during embryonic or fetal development and are present since birth. The cause may be genetic, environmental or unknown and can result in physical and/or mental impairment. Here is the latest research on birth defects.