Congenital Flashcards
What are the two kinds of renal agenesis?
Unilateral + bilateral
What is the most common congenital kidney issue?
Why is its location abnormal and how?
Horseshoe kidney = conjoined kidney at lower pole
Location = abnormal @lower abdomen:
Kidney develop @pelvis – >ascends into abdomen
– >however due to abnormally joined it gets stuck at inferior mesenteric artery – >abnormally located at abdomen
What effect does unilateral renal agenesis have on the one kidney? How can this cause renal failure and when?
Existing kidney = hypertrophy due to its doing the work of two
Not a problem until many years later when hyperfiltration injury occurs – >increased risk of renal failure
At embryology what exactly is the amniotic fluid?
How does bilateral agenesis cause a Oligohydramnios?
Baby floats on an music fluid = babies filtrates from the kidney
A baby swims in its own piss
Explain potter sequence
OLIGOhydramnios – >pulmonary hyperplasia due to not enough amniotic fluid therefore long doesn’t stretch + collapse properly – > PUL. HYPOPLASIA
- illegal oligohydramnios
- twisted face plus skin
4.twisted ears = low set
Oligohydramnios – >babies extremities + face pressed against uterus wall – >
Flat face + low-set ears
5. Extremity defect
- Renal failure
Is potter sequence compatible with life?
What’s diseases can cause potter sequence?
No – babies who can’t pee develop potter sequence
– Bilateral renal agenesis
– Obstructive neuropathy
– ARPKD
what is dysplastic kidney?
What is there an abnormal interaction between and what does this cause?
How does the kidney usually present and what do medical students usually confuse this disease with ?
Noninherited + congenital malformation renal parenchyma with cysts + Abnormal tissue E.g. cartilage
Abnormal interaction between
ureteric bud + metanephric mesenchyme – >
non-functional kidney with cysts + connective-tissue eg cartilage
Usually unilateral = asymptomatic + compensatory hypertrophy of contralateral kidney
bilateral too = need to distinguish from PKD
Why does inherited PKD Result in bilateral enlargement of kidneys?
Cysts @medulla + cortex
What gene defects result in adult PKD
Presentation?
A.D. PKD1 gene mutation = C 16 = 85%
A.D. PKD2 to gene mutation = C4 = 15%
Berry aneurysm, mitral valve prolapse, hepatic cysts, haematuria, urinary infection, hypertension, flank pain, Progressive renal failure
Patient has a family history of renal disease with death occurring due to Reno disease brain haemorrhage. What is the patient have?
Adults PKD
Patient has cysts in the medullary collecting duct only with Shrunken kidneys and worsening renal failure
what does the patient have
Medullary cystic kidney = inherited autosomal dominant defect
Difference between simple and complex renal cysts?
Simple renal cysts are filled with ultrafiltrate is the most common renal mass
Complex renal cysts increase risk of renal cell carcinoma
