Congenital Defects
What is Potter sequence?
atypical physical appearance of a baby due to oligohydramnios experienced when in the uterus
Potter sequence is seen in patients with renal agenesis... What is Potter Sequence?
atypical physical appearance of a baby due to oligohydramnios experienced when in the uterus.
What form of Polycystic Kidney Disease PKD present in young adults as hypertension, hematuria, and worsening renal failure?
autosomal dominant
What is the mod of inheritance of medullary cystic kidney disease?
autosomal dominant
What mode of inheritance of polycystic kidney disease PKD presents in infants as worsening renal failure and hyperternsion?
autosomal recessive
Why is hypertension seen in the autosomal dominant form of PKD in young adults?
increased renin
What artery root does horseshoe kidney get caught on during its ascent?
inferior mesenteric artery...
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What are congenital defects?
1. Congenital anomalies are also known as birth defects, congenital disorders or congenital malformations.... 2. Congenital anomalies can be defined as structural or functional anomalies (for example, metabolic disorders) that occur during intrauterine life and... 3. can be identified prenatally, at birth, or sometimes may only be detected later in infancy, such as hearing defects. 4. In simple terms, congenital refers to the existence at or before birth
What are 5 congenital diseases of the kidney?
1. Horseshoe Kidney... 2. Renal Agenesis... 3. Dysplastic Kidney... 4. Polycystic Kidney PKD... 5. Medullary Cystic Kidney Disease
What are 2 forms of polycystic kidney disease PKD?
1. autosomal recessive... 2. autosomal dominant
What 3 lesions is the autosomal dominant form of PKD associated with?
1. berry aneurysm... 2. hepatic cysts... 3. mitral valve prolapse
What is the autosomal recessive form of polycystic kidney disease associated with?
1. congenital hepatic fibrosis leading to hypertension... 2. hepatic cysts
What are 2 characteristics of dysplastic kidney in patients?
1. cysts... 2. abnormal tissue
What is the etiology of horseshoe kidney?
1. horseshoe kidney is abnormally located in lower abdomen... 2. horseshoe kidney ascends from pelvis to abdomen... 3. during ascent, horseshoe kidney gets caught on IMA root
Autosomal recessive form of Polycystic Kidney Disease PKD presents in what patient population and to what extent?
1. infants.. 2. worsening renal failure and hypertension
What is polycystic kidney disease PKD?
1. inherited defect... 2. bilateral enlarged kidneys with... 3. renal cortex and medullary cysts
What is medullary cystic kidney disease?
1. inherited defect... 2. cysts in medullary collecting ducts
What are 3 clinical features or characteristics of Potter Sequence in patients?
1. lung hypoplasia... 2. flat face with Low set of ears... 3. developmental defects of extremities
What is dysplastic kidney?
1. non-inherited, congenital malformation...of... 2. renal parenchyma characterized by... 3. cysts and abnormal tissue...
Potter sequence is an atypical physical appearance of a baby due to oligohydramnios... What are 4 characteristics of the physical appearance associated with Potter Sequence?
1. pulmonary hypoplasia: often severe and incompatible with life... 2. growth restriction (IUGR)... 3. abnormal facies (Potter facies)... low set ears... flattened nose... wrinkled skin... micrognathia... 4. limb abnormalities: including club feet and contractures...
The autosomal dominant form of PKD presents in what patient population and manifests in what 3 conditions?
1. young adults... 2. hypertension, hematuria, worsening renal failure
What are Potter Facies?
Abnormal facies (Potter facies)... 1. low set ears... 2. flattened nose... 3. wrinkled skin... 4. micrognathia...
What type of filtration is associated with unilateral agenesis?...
Hyperfiltration
Newborns with polycystic kidney disease can also present with what?
Potter Sequence
What are cysts?
abnormal, closed sac-like structures within a tissue that contain a liquid, gaseous, or semisolid substance
What is a cyst?
abnormal, closed sac-like structures within a tissue that contain a liquid, gaseous, or semisolid substance
What is renal agenesis?
absent kidney formation, unilateral or bilateral
What is horseshoe kidney?
conjoined kidneys usually connected at lower pole of kidney
How do the cysts develop in PKD autosomal dominant form in young adults?
cysts develop over time
What is the most common congenital renal anomaly?
horseshoe kidney
What does unilateral renal agenesis lead to?
hypertrophy of existing kidney
Where is horseshoe kidney abnormally located?
lower abdomen
What is the etiology of the autosomal dominant form of PKD in young adults?
mutation in APKD1 or APKD2... cysts develop over time
Is dysplastic kidney inherited or non-inherited?
non-inherited congenital malformation
What does bilateral renal agenesis lead to?
oligohydramnios which leads to Potter Sequence
What leads to the shrunken kidneys and worsening renal failure in patients with medullary cystic kidney disease?
parenchymal fibrosis
Where does horseshoe kidney ascend from and to?
pelvis to abdomen
Dysplastic kidney must be distinguished from which inherited disease?
polycystic kidney disease
Hyperfiltration is associated with unilateral agenesis... What does this increase the risk of?
renal failure later in life... hyperfiltration associated with unilateral genesis...renal failure later in life
How do kidneys appear in medullary cystic kidney disease?... What is the consequence?
shrunken kidneys leading to worsening renal failure
Is dysplastic kidney usually unilateral or bilateral?...
unilateral
