Rare Cases
primary (AL) amyloidosis
● Overview
➣Amyloidosis is a diverse collection of disorders caused by the deposition of extracellular amyloid fibrils.
• The discovery of 30 amyloid precursor proteins.
➣The most prevalent fibrils from monoclonal immunoglobulin light chains (kappa/lambda) are foun
IgA nephropathy
● Overview:
➣IgA nephropathy is the most prevalent cause of glomerulonephritis globally, and it rarely advances to end-stage renal disease (ESRD) in patients with FSGS.
➣A young man with microscopic haematuria and nephrotic-range proteinuria developed end-stage renal dis
Fibromuscular Dysplasia
●The introduction:
➣Inflammatory and non-inflammatory arteriopathies are the two main categories of arterial disorders involving numerous aneurysms.
➣Diagnosis is frequently challenging, although treatment strategies vary significantly between these two.
➣FMD: a
Primary Hyperoxaluria (PH)
●Introduction:
➣The uncommon autosomal recessive inborn defects in glyoxylate metabolism that cause primary hyperoxaluria (PH) result in an excess of oxalate, which damages the kidneys.
➣Types and Enzymes:
•PH1 → Alanine-glyoxylate aminotransferase deficiency (A
Thrombotic thrombocytopenic purpura (TTP)
●The Introduction:
➣Thrombotic thrombocytopenic purpura (TTP) is defined as a thrombotic microangiopathy brought on by a lack of the enzyme ADAMTS13, which cleaves von Willebrand factor (VWF).
➣Types include:
• Acquired TTP: caused by autoantibody inhibitors, whic
fibrillary glomerulonephritis
● Overview:
•FGN, or fibrillary glomerulonephritis
About 1% of kidney biopsies are rare.
• Usually sixty years later.
• Characterised by glomeruli on EM that have haphazardly orientated fibrils (10–30 nm).
In contrast to amyloidosis, it is Congo red-negative.
•
C3 glomerulopathy (C3G)
●Introduction:
➣C3G = rare glomerulopathy due to dysregulation of the alternative complement pathway.
➣Includes: Dense Deposit Disease (DDD) and C3 glomerulonephritis (C3GN).
➣Histology: proliferative GN with MPGN pattern, C3-only staining.
➣Causes: genetic mut
Autosomal dominant tubulointerstitial kidney disease
● Introduction
➣ ADTKD (autosomal dominant tubulointerstitial kidney disease)
➣ Features: gout, arthritis, hyperuricemia, progressive renal failure, and occasionally end-stage renal disease (ESRD) after 10–20 years
➣ Pathology: renal cysts, tubular atrophy, and in
Nephronophthisis
● Overview:
➣ Nephronophthisis is an uncommon autosomal recessive kidney disease that causes renal cysts, interstitial fibrosis, and disruption of the tubular basement membrane. It eventually leads to end-stage renal disease in childhood or adolescence. Since it is classifie
Cystinosis
● OVERVIEW:
➣ Cystinosis is a rare autosomal recessive metabolic illness.
➣ Contributing factors include mutations in the CTNS gene, a malfunctioning lysosomal cystine transporter, cystine buildup, and damage to several systems, including the kidneys, eyes, endocrine s