Rare Cases
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
ureteral endometriosis with severe hydronephrosis
DISCUSSION SUMMARY
◉ Site and Epidemiology:
• The distal third of the ureter, or the upper 3–4 cm above the bladder junction, is primarily affected by UE.
◉ Pathogenesis:
• Implantation theory: endometrial tissue is implanted as a result of surgical seeding or re
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.
•
Primary bladder amyloidosis as a cause of haematuria
◉ Patient Background
• Age/Sex: male, 46 years old
• Ethnic background: Syrian
• History: A number of sporadic, excruciatingly painful episodes of haematuria
• Absence of related urinary symptoms
• Culture of urine: No growth
• Way of life: moderate smoker
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Paraganglioma of the urinary bladder
• Pub is defined as an extra-adrenal sympathetic paraganglioma that develops from the bladder wall's chromaffin tissue.
• The study of epidemiology:
• uncommon tumor
• Age range: 11–84 years; mean age: 43
• Equitable distribution of sexes
• Average diameter: 3.
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
ADULT NECROTIZING ENTEROCOLITIS AND NON OCCLUSIVE MESENTERIC ISCHEMIA
• Case 1 (guy, 45 years old)
• Presentation: Shock, dark loose stools, and acute stomach pain lasting five days.
• Results: ascending colon, gangrenous cecum, gangrenous ileum (4 ft), and pneumoperitoneum → fecal peritonitis.
• Result: Multisystem failure caused dea
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
GASTRIC VOLVULUS
• Patient: man, age 68
• Previous medical history includes hypertension, four years of chronic pancreatitis, and a total knee replacement with • • revision on the left knee three weeks ago.
• Setting: Postoperative rehabilitation in a nursing home
◉ Presenting co