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CONGENITAL AND DEVELOPMENTAL ANOMALIES OF THE URINARY TRACT Flashcards

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1
Q

Congenital and developmental abnormalities of the kidney and urinary tract represent the most common cause of end stage renal disease in individuals younger than.

A

21

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2
Q

CONGENITAL AND DEVELOPMENTAL ANOMALIES OF THE URINARY TRACT account for ….% of pediatric renal failure

A

40-50

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3
Q
  • Certain structural anomalies are associated with urinary tract malformations, including the following:
A

• Low-set, malformed ears
• Sensorineural deafness
• Chromosomal disorders, including trisomy 13 (Patau’s syndrome) and trisomy 18 (Edwards’ syndrome) • Absent abdominal muscles (prune-belly syndrome)
• Anomalies of the spinal cord and lower and upper extremities
• Imperforate anus and Hirschsprung’s disease
• Optic nerve coloboma (hole)
• Nephroblastoma (Wilms tumour)
• Cystic disease of the liver

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4
Q

The abnormalities can affect the (examples)

A

kidney →dysplasia, agenesis, and hypoplasia
collecting system → duplicated collecting system, hydronephrosis, megaureter,
bladder → ureterocele and vesicoureteral reflux, or
urethra → posterior urethral valves

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5
Q

Most result from …… of unknown cause.
Others are caused by …..thatimpact the development of the kidney and especially the ….

A

sporadic developmental defects

germline mutations in genes
Ureteric bud

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6
Q

-the most common form of renal cystic disease in childhood

A

Multicystic dysplasia

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7
Q

The term dysplasia in this context refers to

A

a developmental rather than a preneoplastic lesion

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8
Q

Because renal dysplasia is often associated with…
…. is thought to play a role in its development.

A

obstruction in the lower urinary tract,

Increased hydrostatic pressure in the developing kidney

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9
Q

Cysts in multi cystic dysplasia histology: ducts and tubules lined by…
surrounded by

A

epithelial cells

cuffs of cellular mesenchyme

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10
Q

RENAL AGENESIS
-… agenesis is incompatible with life and usually is encountered in …..

A

Bilateral
Stillborn infants

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11
Q

RENAL AGENESIS -It is often associated with other congenital disorders →e.g.,

A

limb defects, hypoplastic lungs

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12
Q

Unilateral agenesis is

A

uncommon and compatible with normal life

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13
Q

HYPOPLASIA is common unilaterally but may occur billateraly causing

A

enal failure in early childhood,

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14
Q

hypoplastic kidney shows

A

no scars and
has a reduced number of renal lobes and pyramids, usually six or fewer.

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15
Q

HORSE-SHOE KIDNEY
-the kidneys may fail to ascend from the pelvis to the abdomen

A

→ectopic kidneys

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16
Q

Approximately one-third of individuals with horseshoe kidneys are

A

asymptomatic

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17
Q

he most common problems horseshoe kidney

A

hydronephrosis, infection,
stone formation, and, rarely, renal malignancies

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18
Q

Some forms, of cystic diseases of kidney such as …., constitute major cause chronic kidney disease

A

adult polycystic disease

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19
Q

pathophysiology of the hereditary cystic diseases

A

the underlying defect is in the cilia-centrosome complex of tubular epithelial cells →may interfere with fluid absorption or cellular maturation, resulting in cyst formation.

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20
Q

SIMPLE CYSTS

A

innocuous lesions that occur as multiple or single cystic spaces of variable size. (1-5 rarely 10)

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21
Q

Gross simple cysts

A

translucent;
lined by a gray, glistening, smooth membrane; and
filled with clear fluid

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22
Q

LM simple cysts

A

membranes are seen to be composed of a single layer of cuboidal or flattened cuboidal epithelium,
which in many instances may be completely atrophic
The cysts usually are confined to the cortex.

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23
Q

Simple cysts are a common postmortem finding that has no clinical significance.
-The main importance of cysts lies in

A

their differentiation from kidney tumors, when they are discovered either incidentally or during evaluation of hemorrhage and pain

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24
Q

Radiographic studies show that in contrast with renal tumors, renal cysts have

A

smooth contours, are almost always avascular, and produce fluid rather than solid tissue signals on ultrasonography.

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25
Acquired cystic kidney disease occurs in patients with
end-stage renal disease who have undergone dialysis for many years
26
In acquired cystic kidney disease Multiple cysts may be present in .. And they cause...
Medulla and cortex Hematuria
27
Acquired cystic disease reaises the rist for
Renal neoplasms by 100 times
28
AUTOSOMAL DOMINANT (ADULT) POLYCYSTIC KIDNEY DISEASE is characterized by
multiple expanding cysts affecting both kidneys that ultimately destroy the intervening parenchyma
29
Rate of AUTOSOMAL DOMINANT (ADULT) POLYCYSTIC KIDNEY DISEASE
1 in 500 to 1000 individuals
30
AUTOSOMAL DOMINANT (ADULT) POLYCYSTIC KIDNEY DISEASE account for ... cases for chronic kidney disease
10%
31
-This disease is genetically heterogeneous →can be caused by inheritance of
one of at least two autosomal dominant genes of very high penetrance 85% to 90% of families, PKD1, on the short arm of chromosome 16, is the defective gene encodes a large (460-kDa) and complex cell membrane–associated protein called polycystin-1 PKD2 gene, implicated in 10% to 15% of cases, resides on chromosome 4 and encodes polycystin-2, a smaller, 110-kDa protein.
32
In PKD1 The extracellular domains have regions that can bind to
extracellular matrix
33
Polycystin-1 localizes to
the primary cilium of tubular cells giving rise to the concept of renal cystic diseases as a type of ciliopathy
34
polycystin mutations to cilium
—>produce defects in mechanosensing of fluid flow → alters downstream signaling events involving calcium influx →dysregulation of cell polarity, proliferation, and cell–cell and cell–matrix adhesion.
35
Polycystin 1 increases ... which stimulates
intracellular calcium →stimulate proliferation and secretion from the tubular epithelial cells →together lead to the formation of cysts →progressively enlarge over time
36
Mediators in cyst fluid derived from the epithelial cells can further enhance
fluid secretion and induce inflammation
37
the calcium-induced signals alter
the interaction of epithelial cells with extracellular matrix
38
cysts develop in only some tubules most likely due to loss of ... So ...... is required for cyst development.
both alleles of PKD1 a second “somatic hit
39
Polycystin-2 →function as a
calcium-permeable membrane channel, and is also localized to cilia
40
polycystins 1 and 2 are believed to act together by forming
Heterodimers
41
patients withPKD2 mutations diffrence
have a slower rate of disease progression compared to patients with PKD1 mutations.
42
Gross AUTOSOMAL DOMINANT (ADULT) POLYCYSTIC KIDNEY DISEASE
kidney may reach enormous size; weights of up to 4 kg for each kidney have been recorded very large kidneys are readily palpable abdominally as masses extending into the pelvis the kidney seems to be composed solely of cysts of up to 3 or 4 cm in diameter with no intervening parenchyma the cysts are filled with fluid, which may be clear, turbid, or hemorrhagic
43
LM AUTOSOMAL DOMINANT (ADULT) POLYCYSTIC KIDNEY DISEASE
Cysts may arise at any level of the nephron, from tubules to collecting ducts, and therefore they have a variable, often atrophic, lining. Occasionally, Bowman’s capsules are involved in the cyst formation →glomerular tufts may be seen within the cystic space The pressure of the expanding cysts leads to ischemic atrophy of the intervening renal substance Some normal parenchyma may be dispersed among the cysts Evidence of superimposed hypertension or infection is common
44
occur in one-third of patients of autosomal dominant polycystic kidney disease
Asymptomatic liver cysts
45
Polycystic kidney disease in adults usually does not produce symptoms until
the fourth decade of life
46
Polycystic kidney disease most common presenting complaint is
flank pain or a heavy, dragging sensation.
47
may cause excruciating pain. In polycystic
Acute distention of a cyst, either by intracystic hemorrhage or by obstruction
48
The most important complications polycystic
→ are hypertension and urinary infection
49
present in 10% to 30% of patients polycystic
Saccular aneurysms of the circle of Willis
50
End-stage renal disease occurs at about
50 years of age
51
-Death usually results from
uremia or hypertensive complications.
52
... is present in polycystic
Intermediate Hematuria
53
AUTOSOMAL RECESSIVE (CHILDHOOD) POLYCYSTIC KIDNEY DISEASE
rare autosomal recessive disorder that is genetically distinct from adult polycystic kidney disease -occurs in approximately 1 in 20,000 live births
54
Subcategories of AUTOSOMAL RECESSIVE (CHILDHOOD) POLYCYSTIC KIDNEY DISEASE
Perinatal, neonatal, infantile, and juvenile
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- All types AUTOSOMAL RECESSIVE result from mutations in the
PKHD1 gene
56
PKHD1 gene codes for
putative membrane receptor protein = fibrocystin found in cilia in tubular epithelial cell
57
MORPHOLOGY AUTOSOMAL RECESSIVE
numerous small cysts in the cortex and medulla give the kidney a spongelike appearance
58
AUTOSOMAL RECESSIVE what replace the medulla and cortex
Dilated, elongated channels at right angles to the cortical surface
59
The cysts AUTOSOMAL RECESSIVE
uniform lining of cuboidal cells, reflecting their origin from the collecting tubules
60
Autosomal recessive is always
Bilateral
61
Liver and autosomal recessive
almost all cases, findings include multiple epithelium-lined liver cysts and proliferation of portal bile ducts
62
Clinical Features autosomal recessive
- serious manifestations usually are present at birth, and young infants may die quickly from hepatic or renal failure -
63
Patients who survive infancy develop
liver cirrhosis = congenital hepatic fibrosis
64
most common polycystic kidney
Perinatal and neonatal
65
MEDULLARY DISEASES WITH CYSTS -There are two major types of cystic disease affecting the medulla:
medullary sponge kidney, nephronophthisis-medullary cystic disease complex
66
medullary sponge kidney, a relatively..... occasionally associated with....
common and usually innocuous condition nephrolithiasis
67
-medullary cystic disease complex →almost always associated with
associated with renal dysfunction
68
medullary cystic disease complex usually begins in
childhood
69
Four variants are recognized Nephronophthisis–medullary cystic disease complex
Infantile nephronophthisis, Juvenile nephronophthisis, adolescent nephronophthisis, medullary cystic disease developing later in adult life
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form is the most common.
Juvenile
71
Approximately 15% to 20% of children with juvenile nephronophthisis have
extrarenal manifestations→ retinal abnormalities, including retinitis pigmentosa, and even early-onset blindness oculomotor apraxia, mental retardation, cerebellar malformation and liver fibrosis
72
most common genetic cause of end- stage renal disease in children and young adults
nephronophthisis
73
MORPHOLOGY of nephrophthisis
small contracted kidneys -Numerous small cysts lined by flattened or cuboidal epithelium are present, typically at the corticomedullary junction
74
Other nonspecific pathologic changes in nephrophthisis
a chronic tubulointerstitial nephritis with tubular atrophy and thickened tubular basement membranes and progressive interstitial fibrosis
75
Clinical Features of nephrophthisis
The initial manifestations are usually polyuria and polydipsia,
76
...should lead to suspicion of nephronophthisis.
A positive family history unexplained chronic renal failure in young patients
77
Progression to end-stage renal disease ensues over
a 5- to 10-year period.
78
Nephrophthisis difficult to diagnose because
there are no serologic markers, and the cysts may be too small to be seen with radiologic imaging cysts may not be apparent on renal biopsy if the corticomedullary junction is not well sampled

303 Patho (1 decks)

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