AN INTERESTING CASE REPORT OF MINIMAL CHANGE DISEASE PRESENTING AS NEPHROTIC SYNDROME IN YOUNG FEMALE WITH PARTIAL LIPODYSTROPHY, DUNNIGAN TYPE

Introduction:

Familial partial lipodystrophy type 2 (FPLD2), also known as dunnigan syndrome is a rare autosomal dominant disease caused by mutations in the LMNA gene and clinically it presents with hypertriglyceridemia, low serum HDL cholesterol, severe insulin resistance causing diabetes mellitus and disproportionate fat distribution due to excessive fat distribution in face, neck and axilla. Clinical phenotype is similar only with presence of extensive fat loss from limbs, trunks and buttocks. Disease is characterized by systemic involvement of cardiovascular, metabolic, neurological and renals. out of which most common renal involvement is the presence of proteinuria ranging from sub-nephrotic proteinuria to frank nephrotic syndrome, secondary to Focal segmental glomerulosclerosis (FSGS) or membranoproliferative glomerulonephritis (MPGN). Herein we report a patient with Dunnigan syndrome type partial lipodystrophy complicated by nephrotic syndrome due to minimal change disease (MCD).

Methods:

A female in her early 20s, without any prior comorbidities presented to tertiary care hospital with complains of edematous illness for 2 weeks, before which she was apparently well living. It was associated with froth in urine, which was persistant for 2 weeks. Patient had a past history of abnormal distribution of fat over face and shoulder and bilateral lower limb weakness starting from teenage.

On examination, patient had unequal subcutaneous fat deposition with loss of fat from the bilateral upper and lower limbs with more of fat deposition in subcutaneous space around face and neck. There was no xanthomas/ xanthelasmas, acanthosis nigricans.

 Renal biopsy was done keeping a possibility of adult onset nephrotic syndrome and same was suggestive of minimal change disease. DIF was negative for any deposits. For genetic analysis and final diagnosis, next generation sequencing was done for detection of pathogenic variants of LMNA gene and same was positive.

Hence, a diagnosis of familial partial lipodystrophy type 2 or Dunnigan syndrome was made. Patient was started on steroids 1mg/kg/day along with tab pioglitazone and tab metformin. Patient achieved remission within 6weeks and steroids were tapered and stopped. Differentiating fact in our case was acute presentation of nephrotic syndrome and renal biopsy was suggestive minimal change disease which is rare presentation. More commonly seen are Focal segmental glomerulosclerosis (FSGS) and membranoproliferative glomerulonephritis. However, possibility of unsampled FSGS still cannot be ruled out.

Results:

Minimal change disease with partial lipodystrophy type 2 with diabetes mellitus was made. Following remission, patient was kept on maintaince pioglitazone and tab metformin for glycemic control

Conclusions:

In a patient with early onset diabetes mellitus with no retinopathy, a possibility of primary glomerular disorder or familial syndromic associations should be kept

I have no potential conflict of interest to disclose.

I did not use generative AI and AI-assisted technologies in the writing process.