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Path Lab

Name: Onyedika Egbujo


No: #671
Topic: Polycystic Kidney Disease

Identify the Tissue with reason

Describe gross morphology changes

Describe histopathology changes

List possible etiology/ risk factors

The cut surface of a markedly enlarged kidney


from an adult with ADPKD shows very large cysts
that can be filled with clear fluid or filled with
recent or organizing hemorrhage
ADPKD results in very large kidneys, (3 or 4 kg
or more). The affected kidneys are just a mass of
large fluid-filled cysts. There is often hemorrhage
into the cysts, so that some can be filled with
grumous brown organizing hemorrhage. There may
be intervening normal renal parenchyma earlier in
the disease, or just fibrotic stroma late in the course
ARPKD, the kidneys are markedly enlarged and
tend to fill the retroperitoneum and displace
abdominal contents. The kidneys tend to be
symmetrically enlarged. The cysts are quite small
and uniform, perhaps 1 to 2 mm on average
ADPKD: There may be intervening normal renal
parenchyma earlier in the disease, or just fibrotic
stroma late in the course.
The distinctive feature in the infant kidney is a
glomerular cyst in which a glomerulus is involved
with the cystic change.
ARPKD: the radially arranged cysts prominently
present.
Characteristic appearance of congenital hepatic
fibrosis, seen as expanded portal regions with
fibrosis and radially arranged bile ducts.

ADPKD: PKD1 gene, encoding for


polycystin-1, and the PKD2gene, encoding for

polycystin-2.
The former is more common.
ARPKD: PKHD1 gene that encodes for a
membrane-associated receptor-like protein called
fibrocystin.
Describe the pathogenic mechanism

ADPKD: Polycystins function in Ca2+ channels


and disruption of normal intracellular Ca2+
homeostasis may underlie cyst formation.
ARPKD: Fibrocystin protein is involved in ciliary
signaling required for regulation of proliferation
and differentiation of renal and biliary tract
epithelial cells. Abnormalities lead to dilation of
renal collecting ducts. In the liver there is
expansion of portal tracts from ductal plate
malformation with increased numbers of dilated
bile ductules in expanded fibrous connective tissue,
called congenital hepatic fibrosis

Risk factors:

What is the pathology or diagnosis

List symptoms/signs

Parental consanguinity

Presence of hepatic fibrosis

Siblings with PKD

Enlargement of one or more cysts


Bleeding, which may be confined inside
the cyst, or lead to gross hematuria with
passage of clots or a perinephric hematoma
Urinary tract infection (eg, acute
pyelonephritis, infected cysts, perinephric
abscess)
Nephrolithiasis and renal colic
Rarely, a coincidental hypernephroma
Diagnostic Tests
Renal ultrasound
CT scan of abdomen/pelvis
MRI of abdomen/pelvis
Urinalysis/Gram stain and urine culture
Serum electrolytes, BUN, creatinine
Fasting lipid profile
CT scan of brain

Pain or tenderness in the abdomen


Blood in the urine
Frequent urination
Pain in the sides

List other systems affected/complications

List relevant/additional info


Write a clinical vignette

Urinary tract infection (UTI)

End-stage renal disease (ESRD)


Polycystic liver disease
Cerebral aneurysms
Nephrolithiasis

N/A
Case: This case describes a 38-year-old Korean
female with history of hepatitis B (prior positive for
Hep B core antibody, treated with Epivir in the post
renal transplant setting, now with negative Hep B
core antibody and undetectable viral load),
thrombocytopenia, diabetes mellitus type II,
chronic kidney disease secondary to polycystic
kidney disease, status post cadaveric CMV positive
renal transplant, with multiple episodes of
urosepsis and pyelonephritis. Patient presented with
fevers and chills for 1 day with associated nausea
and vomiting for 2 days. On admission, the patient
denied dysuria or hematuria. Abdominal ultrasound
revealed moderately coarse nodular liver
parenchyma and multiple cysts in the right liver,
the largest one measuring 1.9 x 1.17 cm, and
splenomegaly. Patient's family history was positive
for polycystic kidney disease in her father. Given
the patient's presenting symptoms, radiologic
findings, and history of polycystic kidney disease,
the patient underwent liver biopsy. Findings were
broad fibrous septa with ductal abnormalities
suggestive of ductal plate malformation all
confirming the diagnosis of Congenital Hepatic
Fibrosis.
Conclusion/Discussion: Congenital hepatic
fibrosis (CHF) is a fibrocystic liver disease that has
a close relationship with autosomal recessive
polycystic kidney disease (ARPKD). The incidence
of ARPKD is around 1:20000, with the incidence
of congenital hepatic fibrosis reported to be 43% to
83%. This close relationship has been linked to a
mutation in the PKHD1 gene, which encodes a
protein found on the primary cilia of renal and bile
duct epithelial cells and has been recognized to
maintain the tubular architecture of cells in the
kidney and liver. ARPKD normally occurs early in
patient's life, and will lead to dialysis and/or
transplant early in life. Patients who survive past
infancy generally seem to have a milder renal
phenotype and will maintain good renal function
into adulthood, but are at higher risk of liver

List 3 important features that might be tested

disease, especially in setting of renal


transplantation, which allows patients to live
longer. The initial diagnosis is made by
identification of an anatomic lesion via ultrasound,
CT, MRI and/or MRCP, which then is confirmed
by liver biopsy. Recognizing the intimate
relationship between ARPKD and CHF and early
signs of ensuing portal hypertension are of clinical
relevance in early diagnosis and intervention. The
goal is to decrease the incidence of bleeding and
infection and ultimately to reduce morbidity and
mortality in this unique population.
Risk factors, pathologic mechanism and
morphological features.