Congenital Defects

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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


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