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Renal and Urinary 3 > Important Cystic Diseases of the Kidney > Flashcards

Important Cystic Diseases of the Kidney Flashcards

1
Q

IMportant points

A

Renal cysts in childrne is unusual (think PKD)

Even though uni/bilateral cysts are common past the 5th decade, multiple are not

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2
Q

Location of cyst in autoDom and auto rec

A

Auto rec - in the collecting duct

Auto dom - all over

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3
Q

Auto dom

Auto rec

Developmental

A

ADPKD
TSC

ARPKD
Juveline nephronophthisis
Bardet-Biedel

Multicystic dysplastic kidne y

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4
Q

ARPKD

A

Auto rec PKD

Common

Gene defect on chromosome 6 — PKHD1

50% early mortality due to renal failure nad pulmonary hypoplasia

80% chance to 15 if survive 1 yr

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5
Q

ARPKD dx at birth

A

Renal ultrasound - usually no macrocytss…very lsrge kidney with epatic fibrosis

Pulm hypoplasia and resp distress

Oligohydramnios

Potter facies

Dec renal function and complicated delivery

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6
Q

ARPKD later and therapy

A

HTN with cardaic hypertrophy and CHF

Renal failure

Hepatic fibrosis and portal HTN

Therapy - resp assistance, neprhetomy,

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7
Q

Potter facies

A

ABnormal ear lboulation, micrognathia, flat nasal tip, suborbital grooves

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8
Q

ADPKD

A

Cysts in bilateral kidney, liver, pancreas and arachnoid membrane

Penetrance 100% but expression variable

Frequent reason to start dialysis every year

ONset adulthood

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9
Q

Etiology and path of ADPKD

A

PKD1 - chromosome 16
PKD2 - chromosome 4

Can arise from any segment of the nephron..will dissociate as they grow and become fluid filled…fluid within cyst will give clue as to which segment

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10
Q

US dx of ADPKD

A

Fam hx
2 cysts uni or bi before age 30
2 in each kidney 30-59
Over 4 in each kidney older than 60

Rare exception - large kidneys with no macrocyts in infancy

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11
Q

Kindey and extrarenal ADPKD

A

Rneal enlargmeent leading to pain

Hematuira - if cyst communicates wiht collecting system

HTN - importantr for prognissi

Nephrolithiasis - 20%

POlycystic liver dz, intracranial aneurysms, valvular heart dz

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12
Q

ADPKD dx, prognosis, tx

A

Genetic testing

Varaibel…rirks - young male, early onset HTN< hematuria

Supportive

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13
Q

TSC - type of dz

A

Neurocutaneous syndrome

Neurofibromatosis
Tuberous scwelrosis
Sturge-Weber
Ataxia Tenalngiectasie

Skin and nervous involved and b/c both from ectoderm

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14
Q

TSC specficis

A

AUdo dom - TSC1 (9) or TSC2 (16) - tumor suppressors

High incidence of spontaenous mutations

Renal angiolipomas - most common
Renal cysts/carcinoma

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15
Q

TSC dz

A

Neurologic - seizures secondary to brain lesiosn and mental retardation
Derm - facial angiofibromas , fibrous forehead plaque, ungual fibroa, shagreen patch

Renal angiomyolipomas and cardiac rhabdomyomas

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16
Q

TSC dx and tx

A

Genetic testing

Angiomyolipomas - risk of rupture so surgery

Renal cystic - optimal BP control

Renal carcinoma - suspect of lesions without fat…biopsy

17
Q

Juvenile nephronophthisis

A

Vanishing of the nephonrs

Isolated or combined with retinitis pigmentosa, cong hepatic fibrosis or skeletal anomalies

Auto rec

Most commonly mapped to NPHP1 gene (2)

Nrphocystin

18
Q

Clinical june neprho

A

Grwoth retardation

Urinary concentrating defect

No HTN, hematurea or proteinuria

50% renal cysts in corticomedullary jxn

Anemia???

Insidious decline and kidney failure in 3rd decade

19
Q

Senior-Loken syndrome

A

Retinitis pigmentosa (caused by tapetoretinal degen) and NPH - nystagmus and early blidness

20
Q

Dx of juve neprho

A

Genetic testing

Supported by short stature, enuresis, diluite urine sample, imaging

21
Q

Bardet-Biedl syndrome

A 
Obseity with retardation
Pigmentary retinopathy
Polydactyly
Renal dx 
HYpogenitalism
22
Q

Multicystic dysplastic kidney

A

Unilaterla multiloculated abdominal mass with thin walled no-comm cysts

US - enlarged kindey on one side with multiple non-communicating cysts that are surrounded by echogenic dusplastric parenchym a

Distinguised from obstructed hydroneprhotic kdiney

Atretic ureters

23
Q

MCDK risk , course, and ocmps

A

FIrst timester UTobstruction

Failure to promotte normal neprhogenesis?

Involution at 2 y/o

HTN

24
Q

MCDK postnatal eval

A

SHould begin with renal US

renal MAG3 scan to rule out obstruction

Renal and Urinary 3 (22 decks)

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