Академический Документы
Профессиональный Документы
Культура Документы
KIDNEY
DISEASE
(PKD)
OBJECTIVES
Understand the functions of the normal
kidney.
Define Polycystic Kidney Disease (PKD).
Describe and differentiate the two types of
PKD.
Outline the pathophysiology of PKD.
List some complications of patients with
PKD.
Enumerate the diagnostic examinations
used to diagnose PKD.
List the treatment options of patients with
FUNCTIONS OF
KIDNEYS
1. REMOVAL OF WASTE PRODUCTS
Urea breakdown of protein in
the diet
Creatinine end product of
creatine metabolism (muscle
breakdown
FUNCTIONS OF
KIDNEYS
2. REGULATION OF:
Fluid balance
Electrolyte balance
Sodium, Potassium, Phosphate,
Magnesium
Acid-base balance
Metabolic acidosis prevention
FUNCTIONS OF
KIDNEYS
3. ENDOCRINE
Production of Renin
Enzyme that controls BP by
affecting Na+ and fluid volume.
Erythropoetin Formation
Controls RBC production in the
bone marrow.
POLYCYSTIC KIDNEY
DISEASE
It is an inherited disorder
characterized by cystic expansion
of the kidneys producing
progressive kidney enlargement
and renal insufficiency, in addition
to various extrarenal manifestations.
It is also a multisystemic and
progressive disorder characterized
by cyst formation and
enlargement in the kidney and
ADPKD
(Autosomal Dominant PKD)
Characterized by slow but
progressive enlargement of the
kidneys with renal failure occurring
by the fifth to sixth decade of life
The term AUTOSOMAL DOMINANT
means a child can get the disorder
by inheriting the gene mutations
from only one parent and has a 50%
chance of inheriting it.
ADPKD
(Autosomal Dominant PKD)
ADPKD presents with
Hypertension
flank pain
Hematuria
renal cyst infections
ARPKD
(Autosomal Recessive PKD)
By contrast, typically presents in a
younger patient population.
the child has to inherit the gene
mutation from both parents to have
an increase likelihood for the disorder
with a 25% chance, or one in four.
If only one parent carries the
mutated gene, the child will not get
the disorder, although the child may
inherit the gene mutation. The child
ARPKD
(Autosomal Recessive PKD)
The disease is characterized by:
cystic dilation of the collecting ducts of
the kidneys, resulting in;
congenital hepatic fibrosis and
often death in the perinatal period due
to respiratory failure
CLINICAL PRESENTATION
ADPKD
few or no symptoms at the time of diagnosis
symptoms typically begin between 30 to 50
years of age, and;
most commonly include acute abdominal or
flank pain
Hypertension is the most common clinical
manifestation
Other S/Sx include:
Palpable kidneys
Microscopic or gross hematuria
Recurrent UTIs
Lower back discomfort
CLINICAL PRESENTATION
Extrarenal manifestations are:
hepatic cyst development
Intracranial aneurisms
CLINICAL PRESENTATION
ARPKD
Has a variable clinical presentation and age of
onset with most cases being diagnosed in utero
or shortly after birth.
Can be detected in utero by the presence of very
large echogenic kidneys that occupy much of the
abdominal cavity, along with oligohydramnios,
due to inadequate renal development
Findings (on neonates) include:
pulmonary hypoplasia
extremity abnormalities
unusual facial appearances and;
deformities of the spine, all of which can be attributed to
CLINICAL PRESENTATION
Presenting S/Sx due to complications of
congenital hepatic fibrosis:
Portal hypertension
Cholangitis
Hepatomegaly
Electrolyte abnormalities
Hyponatremia
PATHOPHYSIOLOGY
PREDISPOSING
FACTORS
Age
Gender
Race
Hereditary
PRECIPITATING
FACTORS
None (PKD runs in
families. It is an
inherited disorder that
is passed from parents
to children through
GENE MUTATION OR DEFECT
genes.)
COMPLICATIONS
Pain
Hypertension/renal
insufficiency
Palpable Kidneys
UTIs
Kidney stones
Liver cysts
Pancreatic cysts
Abnormal heart valves
DIAGNOSIS
What test/s would you order?
DIAGNOSIS
IMAGING TESTS
Ultrasound
bilateral multiple cysts, renal
enlargement due to fluid filled cysts
DIAGNOSIS
UA, BUN, CREATININE
for renal failure
GENETIC TESTING
the geneticist takes a blood or saliva
sample and analyzes the DNA for gene
mutations
TREATMENT
AT PRESENT, THERE IS NO CURE FOR
PKD.
Recent studies suggest that drinking plain
water throughout the day and avoiding
caffeine in beverages can slow the growth
of cysts.
TREATMENT
TO CONTROL SYMPTOMS
careful control of blood pressure
prompt treatment with antibiotics of a bladder or
kidney infection
lots of fluid when blood in the urine is first noted
medication to control pain (talk to your doctor
about which over-the-counter medicines are safe
to take if you have kidney disease)
a healthy lifestyle with regard to smoking
cessation, exercise, weight control and reduced
salt intake
drinking lots of plain water throughout the day
avoiding caffeine in all beverages
Dialysis (for renal failure)
THANK YOU