Retinal Findings in C3 Glomerulopathy: A Rare Clinical Case


SCIENTIFIC POSTER

Retinal Findings in C3 Glomerulopathy A Rare Clinical Case by Ines Matias, Si­lvia Diniz, Pedro Neves, Hugo Seuanes, David Martins, Portugal


ABSTRACT

Introduction:

C3 glomerulopathy is a rare renal entity that result from abnormal regulation of the alternative complement pathway and is characterized by predominant glomerular C3 fragment deposition with electron-dense deposits on electron microscopy. It consists of dense deposit disease (DDD) and C3 glomerulonephritis (C3GN), and was previously classified under membranoproliferative glomerulonephritis (MPGN). Typically presents with proteinuria and hematuria in the face of low serum C3 levels. Many patients with DDD develop extrarenal abnormalities: drusen in Bruch’s membrane of the retina and may also have acquired partial lipodystrophy (APL), also called Barraquer-Simons (or Dunnigan-Kobberling) syndrome.

Methods:

A 48-years-old caucasian male was referred to the nephrology department with rapidly progressive renal failure, nephrotic syndrome, hematuria and uncontrolled high blood pressure (HBP) for the past two months. He had a previous history of HBP for two years and smoking habits. The hypothesis of dense deposit disease was suspected and examinations were performed accordingly.

Results:

The physical examination showed loss of subcutaneous fat in the upper half of the body, compatible with acquired partial lipodystrophy. The complementary study revealed a depressed serum C3 level. The remaining study was negative, including serologies for hepatitis C, autoimmunity and monoclonal gammopathies. Renal ultrasound showed no relevant changes. He underwent kidney biopsy, revealing glomerulonephritis due to dense deposits with exclusive C3 deposit. Ophthalmologic examination showed normal best corrected visual acuity and normal intraocular pressure. Dilated fundus observation revealed multiple small drusen, confirmed on optical coherence tomography. This finding helped guide the investigations and posterior confirmation of DDD. The patient progressed to severe renal failure and hemodialysis was initiated, as well as immunosuppressant therapy.

Conclusion:

DDD is a rare renal disease with poor prognosis. In addition to dense deposits in the kidney, persons with DDD can develop deposits in Bruch’s membrane of the retina. This occurs because the ‘choriocapillaris-Bruch’s membrane-retinal pigment epithelium’ interface in the eye is very similar to the capillary-glomerular basement membrane (GBM) interface in the kidney. In contrast to the drusen in AMD, DDD-associated drusen develop at a much younger age and infrequently lead to vision loss.


CONTACT DETAILS

 

Ines Matias
Setubal, Portugal
Email : iffmatias@gmail.com
Cell Phone: +351919467059
Work Phone: +351265549000