Renal: 12.1: Congenital Flashcards
How does autosomal recessive polycystic kidney disease (PKD) present?
worsening renal failure and HTN in an infant
How does a pt get medullary cystic kidney disease?
it’s inherited (auto. dominant)
What are some problems with horseshoe kidney?
increased risk of:
- hydronephrosis
- renal stones
- infections
- renal cancer
Is a mutated APKD1 or APKD2 gene more common?
APKD1
Dx?
- a noninherited, congenital malformation of the renal parenchyma
- characterized by cysts and abnormal tissue (esp. cartilage)
dysplastic kidney
When the the ureteric bud fails to induce differentiation of metanephric mesenchyme, ______ results.
dysplastic kidney
Embryologically, what causes dysplastic kidney to occur?
the ureteric bud fails to induce differentiation of metanephric mesenchyme
Dx?
- oligohydramnios with Potter sequence:
- lung hypoplasia
- flat face
- low set ears
- developmental defects of extremities
bilateral renal agenesis
Dx?
- bilateral enlarged kidneys with cysts in the cortex and medulla
polycystic kidney disease (PKD)
What are the findings in bilateral renal agenesis?
- oligohydramnios
- Potter sequence:
- lung hypoplasia
- flat face
- low set ears
- developmental defects of extremities
What is autosomal dominant polycystic kidney disease (PKD)?
- bilateral enlarged kidneys with cysts in the cortex and medulla
- in a young adult
What is a horseshoe kidney?
- conjoined kidneys
- usu. connected at the lower pole
What is a dysplastic kidney?
- a noninherited, congenital malformation of the renal parenchyma
- characterized by cysts and abnormal tissue (esp. cartilage)
How do horseshoe kidneys perform, functionally?
normal
A horseshoe kidney gets stuck on the _____ as it ascends into the abdomen.
inferior mesenteric artery
Dx?
- mutated APKD1 or APKD2 gene
autosomal dominant polycystic kidney disease (PKD)
What problem occurs embriologically to cause unilateral kidney agenesis?
the ureteric bud fails to develop and induce differentiation of metanephric mesenchyme
What other pathology is autosomal recessive polycystic kidney disease (PKD) associated with?
- Potter sequence
- congenital hepatic fibrosis
- hepatic cysts
What is the most common congenital renal anomaly?
horseshoe kidney
What is the tx for autosomal dominant polycystic kidney disease (PKD)?
- ACE-inhibitors
- ARBs
What is medullary cystic kidney disease?
cysts in the medullary collecting ducts –> parenchymal fibrosis –> shrunken kidneys –> renal failure
What congenital anomaly has a high rate of horseshoe kidney?
chromosomal aneuploidy syndromes, such as:
- Turner syndrome
- trisomies 13, 18, 21
What is polycystic kidney disease (PKD)?
bilateral enlarged kidneys with cysts in the cortex and medulla
Is renal agenesis unilateral or bilateral?
can be either
How does a pt get polycystic kidney disease (PKD)?
it’s inherited (auto. dominant and auto. recessive forms)
Where is a horseshoe kidney normally located?
in the lower abdomen
This causes hypertrophy of one kidney –> renal failure later in life.
unilateral kidney agenesis
What is the underlying mutation that causes autosomal dominant polycystic kidney disease (PKD)?
mutated APKD1 or APKD2 gene
Why do pts with autosomal dominant polycystic kidney disease (PKD) have HTN?
increased renin
Dx?
- Young adult with:
- HTN
- hematuria
- flank pain
- freq. urinary infections
- worsening renal failure
autosomal dominant polycystic kidney disease (PKD)
What is autosomal recessive polycystic kidney disease (PKD)?
- bilateral enlarged kidneys with cysts in the cortex and medulla in an infant
- cystic dilation of the collecting ducts
What other pathology is autosomal dominant polycystic kidney disease (PKD) associated with?
- berry aneurism
- hepatic cysts
- mitral valve prolapse
- *** “think cysts in the kidney, cysts in the brain, cysts in the liver”
Dx?
- cysts in the medullary collecting ducts –> parenchymal fibrosis –> shrunken kidneys –> renal failure
medullary cystic kidney disease
What is the prognosis for medullary cystic kidney disease?
poor
If a baby presents with s/s of portal HTN, think _____.
autosomal recessive polycystic kidney disease (PKD)
How does autosomal dominant polycystic kidney disease (PKD) present?
- Young adult with:
- HTN
- hematuria
- flank pain
- freq. urinary infections
- worsening renal failure
Where does the kidney develop in the embryo?
in the pelvis
Dx?
- bilateral enlarged kidneys with cysts in the cortex and medulla in an infant
- cystic dilation of the collecting ducts
autosomal recessive polycystic kidney disease (PKD)
What is renal agenesis?
the absence of kidney formation
What kidney problem do all these chromosomal aneuploidy syndromes (Turner syndrome; trisomies 13, 18, 21) have in common?
high rates of horseshoe kidney
On which chromosome is APKD2 found?
ch. 4
This is a conjoined kidney, usu. connected at the lower pole.
horseshoe kidney
What does unilateral kidney agenesis lead to?
hypertrophy of the existing kidney –> renal failure later in life
When does autosomal recessive polycystic kidney disease (PKD) present?
usually in infancy
On which chromosome is APKD1 found?
ch. 16
Is dysplastic kidney bilateral or unilateral?
- usu. unilateral
- if bilateral, distinguish from polycystic kidney disease (PKD)
Is polycystic kidney disease (PKD) unilateral or bilateral?
ALWAYS bilateral
How does a pt get dysplastic kidney?
it’s congenital but NOT inherited
What are the components of Potter sequence?
- lung hypoplasia
- flat face
- low set ears
- developmental defects of extremities
How does congenital hepatic fibrosis present?
s/s of portal HTN
This is when the ureteric bud fails to develop and induce differentiation of metanephric mesenchyme –> complete absence of kidney and ureter.
unilateral kidney agenesis
