Pathoma Congenital Flashcards
Horshoe Kidney
Conjoined kidney usually at lower portion. Most common congenital abnormality of the kidney
Where is a horshoe kidney and why is it there?
Lower abdomen, it stops at the IMA because during development, as it is rising, it cannot get past this point anatomically. Remember that the kidneys start in the pelvis and move up.
Renal agenesis
Abscence of kidney formation, can be uni or bilateral
Unilateral agenesis leads to what?
Hypertrophy of existing kidney and hyperfiltration increases the risk of renal failure later in life
What is the underlying condition we appreciate with bilateral agenesis?
Low or absent amniotic fluid
Results of low amniotic fluid
- Lung Hypoplasia - Amniotic fluid helps the lung inflate in utero, and without enough of it, your lungs don’t stretch enough
- Flat face and low set ears
- Developmental defects of extremities caused by the baby being pushed against mom suring development
These conditions are known as what?
- Lung Hypoplasia - Amniotic fluid helps the lung inflate in utero, and without enough of it, your lungs don’t stretch enough
- Flat face and low set ears
- Developmental defects of extremities caused by the baby being pushed against mom suring development
Potter Sequence
Oligohydramnios
Too little amniotic fluid
Dysplastic Kidney follows what inheritance pattern?
Noninherited, congenital malformation
What is and what is happening with a dysplastic kidney?
Noninherited, congenital malformation of renal parenchyma characterized by cysts and abnormal tissue like cartilage
Why might we see bilateral dysplastic kidneys instead of the more common unilateral dysplastic kidneys on an exam?
Because examiners are trying to get you to think. They want you to confuse dysplastic kidney with PKD, which will be your knee jerk answer.
Is there an inheritance risk for PKD?
Yep! Inherited defect
PKD does what to the kidneys?
Bilateral enlarged kidneys with cysts in the renal cortex and medulla
Most important fact in determining the type of PKD
Most likely autosomal recessive PKD if it is an infant and autosomal dominant if it is a young adult
Autosomal recessive PKD is associated with what two other conditions?
- Congenital hepatic fibrosis
2. Hepatic cysts
Newborns with autosomal recessive PKD may present with this
Potter Sequence
Autosomal Recessive PKD leads to these general lethal conditions
Renal failure and HTN
What kind of infantile presentation might we expect with someone who has Autosomal PKD?
Recall that it is linked to congenital hepatic fibrosis caused by the hepatic cysts. This will lead to liver portal hypertension.
Autosomal Dominant PKD is linked genetically to mutations. What are they?
APKD1 and 2 genes
Renal failure and HTN are actually common in both forms of PKD, but this is more common in the autosomal dominant.
Hematuria
Both forms of PKD are associated with hepatic cysts. Obviously in the young adult who has autosomal dominant, we won’t expect congenital hepatix fibrosis as strongly because they have lived so long.
However, there are two other conditions unique to the autosomal dominant PKD. What are they?
Berry aneurysm and mitral valve prolapse
What is the underlying difference for why Autosomal Dominant PKD hits later in life instead of early?
The cysts develop over time
Typical history for someone who has autosomal dominant PKD
Family history of renal issues and often times hemorrhagic brain leading to death (Berry Aneurysms caused by APKD (Adult PKD) are the leading cause of death for this condition)
Inheritance pattern for Medullary Cystic Kidney Disease
Autosomal dominant defect
Where in the kidney will we find problems with medullary cystic kidney disease?
Medullary collecting ducts
What type of damage do we see with medullary cystic kidney disease and what are the consequences?
Parenchymal fibrosis results in shrunken kidneys and worsening renal failure
