Nphro - PKD ppt Flashcards
true of ADPKD
a. progressive formation of endothelial lined cysts
b. only about 5% of tubules are affected
c. mutations in PC1 and PC2
d. autosomal dominant with variable penetrance and complete expression
E. AOTA
F. NOTA
B
a. epithelial lined cysts
c. PKD1 and PKD2, products are PC1 and PC2
d. autosomal dominant with complete penetrance and variable expression
polycistine 1 and 2 are found in
primary cillium
85% of cases are caused by mutations in
a. PKD1
b. PKD2
A
True about ADPKD
a. caused by clonal growth of single cells
b. cells that received somatic “second hit” mutation cause slow onset of cyst development
c. a third hit is required for rapid cyst formation
d. AOTA
e. NOTA
D
in ADPKD, Hundreds to thousands of cyst are usually present in the kidneys of most patients in the ____ decade of life
a. 3rd decade
b. 4th decade
c. 5th decade
d. 6th decade
C
in ADPKD, Enlarged kidneys can reach a _____ increase in length and weigh up to ____ x the normal wt
a. two-fold, 10x
b. three-fold, 15x
c. four-fold, 20x
d. five-fold, 25x
C
in 40% of the patients with ADPKD hematuria results from
cyst rupture
what is the most common cause of death in ADPKD?
infection
ADPKD kidney stones occur in 20% of the patients. These stones are composed of
a. calcium oxalate
b. calcium phosphate
c. uric acid
d. cysteine
C
True about clinical manifestations of ADPKD
a. Renal cell carcinoma is a common complication
b. Ultrasound is useful in distinguising a malignancy from complex cyst
c. hypertension is uncommon
d. liver cyst is derived from hepatic epithelial cells are the most common extra renal complication
e. AOTA
f. NOTA
F
a. renal cell carcinoma is rare
b. MIR and CT scan
c. hpn is common
d. liver cyst derived from biliary epithelial cell
intracranial aneurysm occurs _____ times more frequent
intracranial aneurysm occurs 4-5 times more frequent
True of treatment of APKD EXCEPT
a. no specific treatment to prevent cyst growth or decline of renal function
b. target bp is 140/100
c. lipid soluble antibiotics are recommended for cyst infection
d. standarad treatment for kidney stones is recommended
e. AOTA
f. NOTA
B target is 140/90mmHg
True of ADPKD treatment
a. quinolone, TMP-SMX, chloramphenicol requires 2-4 weeks
b. Benign condition and will not lead to the point of needing RRT
c. Tolvaptan and Octreotide in TAMPO and ALADIN trials did not slow decline in renal function
d. Side effects of Octreotide include liver functional impairment, polydipsia, diarrhea
ALL are false
A. 4 to 8 wks
b. will eventually need RRT
c. Tolvaptan and octreatide - slowed decline in renal function
d. Side ffects of tolvaptan
2 gene abnormalities in tuberous sclerosis
hamartin
tuberin
Hartin and tuberin inhibit intracellular signaling processes mediated by ____ leading to abnormal growth in tissues
mTOR
Most common kidney finding in tuberous sclerosis
angiomyoplipomas
True about tuberous sclerosis
a. angiomyoplipomas tend to be multiple and unilateral
b. malignant growths in the nervous system, eyes, lungs, liver and skin
c. surgical removal for angiomyolipomas >3cm is recommended
d. it may lead to chronic kidney disease where urine sediments are unremarkable
D
a. multiple and bilateral
b. benign growths
c. >4cm
Tuberous sclerosis is
a. autosomal dominant
b. autosomal recessive
A
Autosomal dominant condition caused by mutations in the VHL-tumor suppressor gene which is involved in the formation of cilia
Von-Hippel Lindau Disease
True of von hippel lindau disease
a. multiple bilateral kidney cysts
b. renal cell carcinoma
c. both
d. neither
C
non-renal features of von hippel lindau disease
pheaochromocytomas
cerebellar hemangioblastoma
retinal hemangioma
Autosomal dominant interstitial kidney disease a.k.a
Medullary Cystic kidney disease
ADTKD type 1
a. mucin 1 gene
b. PKD 1
c. UMOD
d. NPHP2
e. mTOR
A
ADTKD type 2
a. mucin 1 gene
b. PKD 1
c. UMOD
d. NPHP2
e. mTOR
C
Juvenile Nephronophthisis
a. mucin 1 gene
b. PKD 1
c. UMOD
d. NPHP2
e. mTOR
D
Hyperuricemia
a. ADTKD type 1
b. ADTKD type 2
B; ADTKD type 1 has normal uric acid levels
What is the most common inherited childhood form of kidney failure?
Nephronophthisis
True about nephronophthisis
a. ciliary function is intact
b. juvenile is the most common
c. hypertension is an early finding
d. autosomal dominant
B;
a. disorders of ciliary function
c. hypertension is a late finding
d. autosomal recessive
what do you call the product of NPHPs?
nephrocystins
most common type of nephronophthisis?
juvenile
NPHP associated with NPHP2 mutation and ESRD in early childhood
infantile
NPHP associated and ESRD in early adulthood
adolescent
NPHP + retinitis pigmentosa
Senior-Loken Syndrome
NPHP + multiple neurologic findings including hypoplasia of the cerebellar vermis
Joubert Syndrome
NPHP + truncal obesity, cofnitive impairment, retinal dystrophy, polydactyl, development of urogenital abnormalities and kidney cyst
Bardot-Biedl Syndrome
There is no specific clinical test that define NPHP T/F
T
developmental malformation and cystic dilatation of the renal collecting ducts
medullary sponge kidney
Stones associated with medullary sponge kidney
calcium phosphate and calcium oxalate stone
note: UTI is common
True of mitrochondrial disease EXCEPT
a. inherited maternally
b. neuromuscular disease is the best recognized part of the complex phenotype
c. tubulointerstitial disease, glumerulosclerosis can happen
d. changes in the distal tubule activity is the most common renal phenotype
D; proximal tubule activity
