A 60 year old woman presents with generalized edema, Skin Ulceration and hypeension. Urine examination shows subnephrotic proteinuria (<2gm) and microscopic haematuria. serum complement levels are decreased and she is positive for anti-hepatitis c antibodies. The likely diagnosis is –
**Question:** A 60 year old woman presents with generalized edema, Skin Ulceration and hypertension. Urine examination shows subnephrotic proteinuria (<2gm) and microscopic haematuria. serum complement levels are decreased and she is positive for anti-hepatitis C antibodies. The likely diagnosis is -
A. Systemic Lupus Erythematosus (SLE)
B. Membranoproliferative Glomerulonephritis (MPGN)
C. Immune Complex Glomerulonephritis
D. Alport Syndrome
**Correct Answer:** D. Alport Syndrome
**Core Concept:**
Alport Syndrome is a hereditary disorder affecting the kidneys, ears, and eyes, due to mutations in COL4A3, COL4A5, or X-linked COL4A6 genes encoding collagen IV proteins in the basement membranes of the affected organs. Collagen IV is a structural protein that forms alpha chains (α3α4α5) which are essential for kidney, ear, and eye health.
**Why the Correct Answer is Right:**
The correct answer (D) is Alport Syndrome because:
1. The patient presents with generalized edema, skin ulcers, and hypertension, which are symptoms and signs of kidney involvement.
2. Urine examination shows subnephrotic proteinuria (<2 g/24h) and microscopic hematuria, indicative of glomerular disease.
3. Serum complement levels are decreased, which is a hallmark of Alport Syndrome.
4. The patient is positive for anti-hepatitis C antibodies, which is a common cause of glomerulonephritis but not the primary diagnosis, while the other options are more specific to their respective diagnoses.
**Why Each Wrong Option is Incorrect:**
A. Systemic Lupus Erythematosus (SLE) - This diagnosis is incorrect because SLE is an autoimmune disease affecting multiple organs, including the kidneys, and its clinical presentation is more varied than Alport Syndrome.
B. Membranoproliferative Glomerulonephritis (MPGN) - This diagnosis is incorrect because MPGN is a diffuse proliferative disease affecting the glomeruli, causing proteinuria and hematuria, but not the characteristic skin ulcers and hypertension seen in Alport Syndrome.
C. Immune Complex Glomerulonephritis - This diagnosis is incorrect because immune complex glomerulonephritis involves the accumulation of immune complexes in the glomeruli, resulting in nephritis. Alport Syndrome is a primary genetic disorder affecting the basement membranes, causing different clinical features.
D. Alport Syndrome - As explained above, this is the correct diagnosis due to its characteristic presentation involving kidney, ear, and eye, decreased complement levels, and positive anti-hepatitis C antibodies.
**Clinical Pearl:**
Hereditary nephrotic syndrome, also known as Alport Syndrome, is a rare genetic disorder affecting the kidneys, eyes, and ears. It is caused by mutations in COL4A3, COL4A4, or COL4A5 genes,