Congenital Anomalies, Mig (L6)

Question 1

Renal Agenesis

- Types

Answer 1

• ## Types: Unilateral (compatible w/ life; more common); Bilateral; (Less common; Potter’s syndrome; Not compatible w/ life)

Question 2

Renal Dysplasia

• Morph
• A/S

Answer 2

• Morph: Immature glomeruli surrounded by undifferentiated mesenchyme such as cartliage
• A/S: Potter’s w/ Pulm hypoplasia

Question 3

Horseshoe kidney

Answer 3

• fusion of kidneys as inferior poles

- stuck in pelvis due to inferior mesenteric artery

Question 4

Simple Renal Cysts

• Pres
• Morph

Answer 4

• Pres: 50% adults after fall/trauma

- Morph: Multiple or solitary clear-filled 2-3 cm cysts

Question 5

Adult Polycystic Kidney Disease

• Genetics
• Presentation
• Path
• S/S

Answer 5

• Autosomal Dominant
• Adult 40 YO w. multiple expanding cysts within cortex + Medulla
• PKD2 -> Polycystin-2, a calcium permeable channel -> Altered growth/differentiation
• S/S: Asymptomatic -> hematuria, insufficiency, renal colic, HTN, proteinuria, polyuria

Question 6

Childhood PKD

• Genetics
• Path
• Morph
• S/S

Answer 6

• G: Autosomal recessive mutation in PKHD1
• PKHD1 -> fibrocystin -> abnormal downstream signaling, proliferation, + differentiation -> Saccular dilatation of collecting ducts
• Morph: Soft, spongy enlarged kidneys; numerous small cysts (1-2mm)
• S/S:Death due to potters (pulm failure + oligohydramnios); HTN + renal failure in those that survive; hepatic fibrosis

Question 7

Nephronophthisis-Adult medullary Cystic Disease

• EPI
• Genetics
• S/S

Answer 7

• EPI: Most common cause of end stage renal disease in children/YAs;
• G: Adults: AD MCKD1/2 mutations -> ESRD; Kids: Recessive mutation in NPHP -> Nephrocystins -> Primary ciliary dysfunction
• Morph: Small contracted kidney; numerous small cysts w/ flat cuboidal epithelium
• S/S: polyuria/dypsia; retinitis pigmentosa + blindness; mental retardation w/ cerebral abnormalities; Liver fibrosis

Question 8

Alport Syndrome

• Genetics
• Path:
• S/S

Answer 8

• Hereditary Nephritis w/ Sensorineural deafness + blindness
• X-linked or Autosomal COL4A5
• PAth: Type IV Collagen defect;
• S/S: Anterior Lenticonus, lens subluxation, hematuria,; deafness

Question 9

Thin basement membrane disease

- Path

Answer 9

• Hereditary Nephritis w/ No extrarenal s/s

- Path: inherited marked thinning of lamina densa of BM

Question 10

Fabry’s Disease

• Genetics
• Path
• Histo

Answer 10

• G: X-linked a-Gal A mutation
• Path:Mutation is a-galactosidase A leads to accumulation og Gb3 and other glycosphingolipids in endothelial + SmM cells
• S/S: Febrile episodes, angiokeratomas, burning pain, + Adult renal disease including proteinuria, polydipsia, CRD/ESRD,
• Histo: Hypertrophic podocytes w. distened foamy vacuoles + Zebra Bodies, mesangial widening, glomerular sclerosis