Chap 20 Flashcards
_ is incompatible with life found in stillborn infants. Due to this defect, amniotic fluid is not made, and the baby gets crushed consistent with potter’s sequence.
Bilateral agenesis
_ is compatible with compatible with life without other abnormalities. The good kidney will become enlarged and hypertrophy, and some develop sclerosis and renal failure.
Unilateral agenesis
how is a congenital hypoplastic kidney distinguished from an acquired atrophic kidney
A true hypoplastic kidney has reduced lobes and pyramids (
Ectopic kidneys usually develop where?
Pelvic brim or within pelvis
What are some common complications of ectopic kidneys?
The ectopic kidneys are usually small and symptomatic. They may cause torsion or obstruction of ureter, predisposing for inferior (pyelonephritis)
A shorsehoe kidney is continuous across the anterior of the aorta and inferior vena cava and get caught by what structure?
Inferior mesenteric artery.
Ectopic kidneys most common is fusion of which pole, upper or lower?
Lower pole (90% of cases)
Horseshoe kidneys have an increased risk of
stone formation
Cystic renal dysplasis is an abnormality in _
metanephrotic differentiation
What is cystic renal dysplasia characterized by?
Histologically by the persistence in the kidney of abnormal structures (cartilage, undifferentiated mesenchyme, and immature collecting ducts) and by abnormal lobe organization. Large cysts surrounded by mesenchyme
On gross examination, how does cystic renal dysplasia appear?
- uni or bi lateral cysts, with extremely enlarged kidneys
A 60 year old woman who has been on dialysis for number of years presents to the ER with flank pain and renal insufficiency. Pt stated she saw blood in her urine earlier during the day. On PE an abdominal mass was palpated. You suspect that patient has 1. The major complication of this disease is 2.
- Acquired (dialysis associated) cystic disease
2. Renal cell carcinoma
Adult form of polycystic kidney disease has what kind of inheritance?
Autosomal dominant
what is the pathogenesis of polycystic kidney disease?
Polycystic kidney disease genes (PKD1 and PKD2) on chromosome 16 and 14, respectively, are implicated in the generation of cyst via polycycstin protein abnormality leading to proliferation of different regions of the tubules
Morphologically, this disease shows enlarged kidneys reaching enormous sizes (4kg/kidney). The surface appears entirely cystic though histology reveals functional parenchyma and arise from different regions of the tubules with cysts expressing variable epithelia.
Autosomal dominant polycystic kidney disease
Patients presents with flank pain and renal insufficiency. she also stated that she has seen blood in her urine. On PE a large abdominal mass was palpable. On further examination abnormalities on PKD1 and PKD2 were noted and confimed autosomal dominant polycystic kidney disease. Extrarenal cyst is most often found where? and what is a common cause of death in these pts?
40% occur in the liver from biliary epithelium and are asymptomatic. Some occur in lungs or spleen; mitral valve prolapse in heart.
10% of deaths occur from intracranial berry aneurysms.
what is the Gene implicated in autosomal recessive polycystic kidney disease and what does it encode and what’s messed up due to the mutation?
PHKD1 which codes for fibrocystin expressed in adult/fetal kidneys liver/pancreas. Mutation screws up collecting tubule+ biliary epithelium differentiation.
Describe how the cysts appear in autosomal recessive PKD.
- enlarged, smooth surfaced, tiny elongated cysts along the interior perpendicular to the cortical surface. Lined by cuboidal cells cuz all cysts come from collecting tubules.
What is the prognosis of autosomal recessive PKD?
highly fatal in infancy, obvious renal failure in all cases.
Those infants who survive autosomal recessive PKD, will develop fibrosis of what other organ?
Liver, along with hypertension and splenomegaly.
On radiology, simple localized renal cysts are often mistaken for tumors. Explain how they appear.
On radiology, a pts scan showed small cortical translucent, grey, glistening, that was lined by a single layered membrane.
What possible symptoms do pts with simple renal cysts present with?
Usually pain and distention if the kidney bleeds into the cysts.
Medullary sponge kidney is an innocuous medullary cystic disease that is found incidentally on radiograph. These pts have increased risk of _
Stones, hematuria, infections
A. Juvenile nephronophthisis - Medullary cystic disease complex (malicious medullary cystic disease) is implicated due to abnormality in what gene? what protein does that gene make?
B. Adult form of nephronopthisis-Medullary cystic disease complex: what gene is implicated?
A. NPH gene which makes nephrocystin –> shrunken kidney
B. MCKD1