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303 Patho > CONGENITAL AND DEVELOPMENTAL ANOMALIES OF THE URINARY TRACT > Flashcards

CONGENITAL AND DEVELOPMENTAL ANOMALIES OF THE URINARY TRACT Flashcards

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
Q

Acquired cystic kidney disease
occurs in patients with

A

end-stage renal disease who have undergone dialysis for many years

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26
Q

In acquired cystic kidney disease Multiple cysts may be present in ..

And they cause…

A

Medulla and cortex
Hematuria

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27
Q

Acquired cystic disease reaises the rist for

A

Renal neoplasms by 100 times

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28
Q

AUTOSOMAL DOMINANT (ADULT) POLYCYSTIC KIDNEY DISEASE is characterized by

A

multiple expanding cysts affecting both kidneys that ultimately destroy the intervening parenchyma

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29
Q

Rate of AUTOSOMAL DOMINANT (ADULT) POLYCYSTIC KIDNEY DISEASE

A

1 in 500 to 1000 individuals

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30
Q

AUTOSOMAL DOMINANT (ADULT) POLYCYSTIC KIDNEY DISEASE account for … cases for chronic kidney disease

A

10%

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31
Q

-This disease is genetically heterogeneous →can be caused by inheritance of

A

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.

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32
Q

In PKD1 The extracellular domains have regions that can bind to

A

extracellular matrix

33
Q

Polycystin-1 localizes to

A

the primary cilium of tubular cells giving rise to the concept of renal cystic diseases as a type of ciliopathy

34
Q

polycystin mutations to cilium

A

—>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
Q

Polycystin 1 increases … which stimulates

A

intracellular calcium →stimulate proliferation and secretion from the tubular epithelial cells
→together lead to the formation of cysts →progressively enlarge over time

36
Q

Mediators in cyst fluid derived from the epithelial cells can further enhance

A

fluid secretion and induce inflammation

37
Q

the calcium-induced signals alter

A

the interaction of epithelial cells with extracellular matrix

38
Q

cysts develop in only some tubules most likely due to loss of …
So …… is required for cyst development.

A

both alleles of PKD1

a second “somatic hit

39
Q

Polycystin-2 →function as a

A

calcium-permeable membrane channel, and is also localized to cilia

40
Q

polycystins 1 and 2 are believed to act together by forming

A

Heterodimers

41
Q

patients withPKD2 mutations diffrence

A

have a slower rate of disease progression compared to patients with PKD1 mutations.

42
Q

Gross AUTOSOMAL DOMINANT (ADULT) POLYCYSTIC KIDNEY DISEASE

A

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
Q

LM AUTOSOMAL DOMINANT (ADULT) POLYCYSTIC KIDNEY DISEASE

A

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
Q

occur in one-third of patients of autosomal dominant polycystic kidney disease

A

Asymptomatic liver cysts

45
Q

Polycystic kidney disease in adults usually does not produce symptoms until

A

the fourth decade of life

46
Q

Polycystic kidney disease most common presenting complaint is

A

flank pain or a heavy, dragging sensation.

47
Q

may cause excruciating pain.
In polycystic

A

Acute distention of a cyst, either by intracystic hemorrhage or by obstruction

48
Q

The most important complications polycystic

A

→ are hypertension and urinary infection

49
Q

present in 10% to 30% of patients polycystic

A

Saccular aneurysms of the circle of Willis

50
Q

End-stage renal disease occurs at about

A

50 years of age

51
Q

-Death usually results from

A

uremia or hypertensive complications.

52
Q

… is present in polycystic

A

Intermediate Hematuria

53
Q

AUTOSOMAL RECESSIVE (CHILDHOOD) POLYCYSTIC KIDNEY DISEASE

A

rare autosomal recessive disorder that is genetically distinct from adult polycystic kidney disease
-occurs in approximately 1 in 20,000 live births

54
Q

Subcategories of AUTOSOMAL RECESSIVE (CHILDHOOD) POLYCYSTIC KIDNEY DISEASE

A

Perinatal, neonatal, infantile, and juvenile

55
Q
  • All types AUTOSOMAL RECESSIVE result from mutations in the
A

PKHD1 gene

56
Q

PKHD1 gene codes for

A

putative membrane receptor protein = fibrocystin found in cilia in tubular epithelial cell

57
Q

MORPHOLOGY AUTOSOMAL RECESSIVE

A

numerous small cysts in the cortex and medulla give the kidney a spongelike appearance

58
Q

AUTOSOMAL RECESSIVE what
replace the medulla and cortex

A

Dilated, elongated channels at right angles to the cortical surface

59
Q

The cysts AUTOSOMAL RECESSIVE

A

uniform lining of cuboidal cells, reflecting their origin from the collecting tubules

60
Q

Autosomal recessive is always

A

Bilateral

61
Q

Liver and autosomal recessive

A

almost all cases, findings include multiple epithelium-lined liver cysts and proliferation of portal bile ducts

62
Q

Clinical Features autosomal recessive

A
  • serious manifestations usually are present at birth, and young infants may die quickly from hepatic or renal failure -
63
Q

Patients who survive infancy develop

A

liver cirrhosis = congenital hepatic fibrosis

64
Q

most common polycystic kidney

A

Perinatal and neonatal

65
Q

MEDULLARY DISEASES WITH CYSTS
-There are two major types of cystic disease affecting the medulla:

A

medullary sponge kidney,

nephronophthisis-medullary cystic disease complex

66
Q

medullary sponge kidney, a relatively….. occasionally associated with….

A

common and
usually innocuous condition

nephrolithiasis

67
Q

-medullary cystic disease complex →almost always associated with

A

associated with renal dysfunction

68
Q

medullary cystic disease complex usually begins in

A

childhood

69
Q

Four variants are recognized Nephronophthisis–medullary cystic disease complex

A

Infantile nephronophthisis,
Juvenile nephronophthisis,
adolescent nephronophthisis,
medullary cystic disease developing later in adult life

70
Q

form is the most common.

A

Juvenile

71
Q

Approximately 15% to 20% of children with juvenile nephronophthisis have

A

extrarenal manifestations→
retinal abnormalities, including retinitis pigmentosa, and even early-onset blindness oculomotor apraxia,
mental retardation,
cerebellar malformation and liver fibrosis

72
Q

most common genetic cause of end- stage renal disease in children and young adults

A

nephronophthisis

73
Q

MORPHOLOGY of nephrophthisis

A

small contracted kidneys
-Numerous small cysts lined by flattened or cuboidal epithelium are present, typically at the corticomedullary junction

74
Q

Other nonspecific pathologic changes in nephrophthisis

A

a chronic tubulointerstitial nephritis with tubular atrophy and thickened tubular basement membranes and
progressive interstitial fibrosis

75
Q

Clinical Features of nephrophthisis

A

The initial manifestations are usually polyuria and polydipsia,

76
Q

…should lead to suspicion of nephronophthisis.

A

A positive family history
unexplained chronic renal failure in young patients

77
Q

Progression to end-stage renal disease ensues over

A

a 5- to 10-year period.

78
Q

Nephrophthisis difficult to diagnose because

A

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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