Renal System- Congenital Anomalies Of The Gu Tract By Ryan

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Renal System- Congenital Anomalies of the GU Tract by Ryan

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Renal System- Congenital Anomalies of the GU Tract by Ryan

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Autosomal Recessive PCKD...
collecting ducts turn into what?
which chromosome?
How do they end up?
when do they present?

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-Results in bilateral involvement & transforms collecting ducts into fusiform cysts
-Genetically on chromosome 6
-All end up with hepatic fibrosis
-Incidence: 1/6000-1/40,000
-Presents at birth on in utero
-Oligohydramnios (low amniotic fluid) due to intrauterine renal failure

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Why is there 'Potter Facies,' and how does it present?

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End up with decreased amniotic fluid levels and typical “Potter facies”
-Low-set ears
-Flat nose
-Retracted chin

*if you're not floating in fluid, your face is getting smushed.

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With ARPKD, in the first year of life, most infant has these things...

What does hepatic fibrosis lead to?

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In first year of life, most infants have palpable kidneys & hypertension
-Develop chronic renal failure

Hepatic fibrosis leads to esophageal varices & risk of bleeding
-Liver cell function is usually normal

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Complications of ARPCKD

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Complications:
-ESRD
-Anemia (not enough erythropoetin)
-Growth failure
-Osteodystrophy

Infections are common

Biliary tree dilates
-Caroli disease

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AR PCKD Laboratory (how does it appear?) and Treatment

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Renal Ultrasound: Bilateral hyperechogenicity
-“salt and pepper” appearance
-Later, rounded cysts appear
Liver ultrasound shows similar findings
-Cysts develop in biliary tree

-Control hypertension
-Stay vigilant for UTIs
-Portal hypertension is a major complication
-Eventually need renal and/or liver transplantation

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Most common AD inheritance in the US is...
-which chromosome?
-when is onset/dx?

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Autosomal Dominant PCKD.
-ESRD usually doesn’t develop until 50-60 years
-Gene on chromosome 16

Usually not diagnosed until late adulthood
-Neonatal cysts and Potter facies has been reported
-Older children may have abdominal pain or masses
-AD is less likely than AR form

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Kids and ADPKD. How to treat. What is a fatal complication?

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-For kids with a family history, a single cyst on ultrasound his highly predictive of development of ADPCKD
-At risk kids need annual exams for hematuria, hypertension & palpable masses
-Treat HTN & UTIs aggressively
-Berry aneurysms can be a fatal complication if they rupture

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Ureteropelvic Junction Obstruction (UPJ) is the most common cause of what? How does it present (in older children)?

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UPJ Obstruction is the most common cause of hydronephrosis in infancy & childhood
-Frequently found on prenatal ultrasound
-Suspected when the renal pelvis is dilated but the ureter is not

In older children, can present with pain, hematuria, HTN, and UTIs
-Usually occurs after drinking liquid
-In infants, can palpate a mass

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Ok, so why do you get UPJ Obstruction? How do you diagnose this?

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-Most commonly due to intrinsic narrowing of the musculature between the junction of the renal pelvis and the ureter
-On occasion, due to external compression
Diagnose with Ultrasound, Renal scan, VCUG

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What is the main idea for management of UPJ Obstruction?

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Preserve Renal Function:
-Management is controversial, but aimed at preserving renal parenchyma and function
-In infants, usually wait until 4-6 months and see if obstruction resolves or improves
-Early pyeloplasty is indicated if postnatal evaluation shows significant decrease in function or massive dilation of the renal pelvis
-If conservative management has not worked by 4-5 years, then pyeloplasty

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Ureteral Duplication... what are symptoms? How symptomatic? How are(n't) they detected?

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-Occurs in 1/160
-Majority are asymptomatic and undetected
-Symptoms occur because of VUR, UPJ obstruction, bladder obstruction or ureteric ectopia
-US will usually not pick up asymptomatic duplications

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How big is Megaureter?
-the categories?
-treatment?

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Dilated ureters >7mm in size
Categories:
-Refluxing or nonrefluxing
-Obstructive or nonobstructive
-Primary or secondary

tx is surgical for primary refluxing megaureters that have recurrent infections or fixed anomaly that causes reflux. most others you can just watch (since kids fix themselves)

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Primary Megaureter

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-Obstructed, nonrefluxing due to a stenotic, nonperistaltic segment of the ureter at the ureterovesical junction

-Refluxing is a congenital anomaly due to an inadequate ureteral tunnel length at the ureterovesical junction

*area where peristalsis fails, things back up.

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Secondary Megaureter

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-Obstructed non-refluxing due to neurogenic bladder, obstructing ureterocele or bladder tumor

-Refluxing due to neurogenic bladder, posterior uretheral valves or ureteroceles

*not getting good nervous control of the bladder
*seen with cerebral palsy, elderly

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Ureteroceles.
-What and where.

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Cystic dilations of the intravesical submucosal ureter
-Can occur with a single system
-More common with duplicated systems
-Usually drains into upper pole of the kidney
Locations:
-Intravesical: completely within the bladder
-At the bladder neck
-Urethra (ectopic)

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Who gets them. Difference between single and duplex systems?

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-Can obstruct and cause reflux
-Girls more frequently affected (4-7 x)
-In single systems, usually asymptomatic
-Picked up on IVP as a “cobra head”
-In duplex systems, present as febrile UTIs
-Management varies
-Surgical & endoscopic

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Retrocaval ureter. What happens? When is it significant?

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-Upper 1/3 of right ureter passes behind the vena cava and becomes obstructed

*exception to the 'water under the bridge' rule
-Only clinically significant if it causes hydronephrosis

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What is the most common cause of obstructive uropathy that leads to renal failure in childhood

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Posterior Urethral Valves:
-Pair of obstructing leaflets in the prostatic urethra
-Also the most common cause of urinary obstruction in male infants
-1/5000 males

*if a boy pops up with a UTI, this is the first thing we have to rule out because if you have posterior urethral valves, the urethra is not going to empty as well, you have urine stasis in the bladder, and an increased chance to get infection.

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Bad mama posterior urethral valve.
-both side affected?

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VURD Syndrome:
Massive unilateral VUR is unique to patients with posterior urethral valves (bladder into ureter reflux)
-Valve
-Unilateral
-Reflux
-Dysplasia

**Contralateral kidney unaffected, thus renal function is preserved

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What do you discover in boys in utero with VURD Syndrome?

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-Most boys are discovered in utero with bilateral hydroureteronephrosis (both ureter and kidney are dilated)

-After birth, Dx made with VCUG
**THIS IS THE FIRST THING YOU RULE OUT IN BOYS WITH THEIR FIRST UTI

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VURD Syndrome... signs, treatment

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-Infants require immediate bladder drainage
-Look for signs of sepsis, abnormal lytes, acidemia, fluid imbalance – treat aggressively
-After stabilization, perform primary transurethral valve ablation
-If too small for cystoscope, do temporary vesicostomy

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Long term complications of VURD Syndrome?

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-Renal insufficiency
-Bladder Dysfunction (always stretched out, so can't contract, muscles get weak)
-ESRD in 25%

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Prune Belly Syndrome. What don't you have?

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-Congenital absence/deficiency of abdominal wall musculature
-Cryptorchidism (absence of one or both testes from the scrotum)
-Dilation of prostatic urethra, bladder & ureters
-More common in boys

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Most severe and most common presentation of Prune Belly Syndrome? Presentation?

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Most severe: complete urethral obstruction, renal failure and oligohydramnios (with pulmonary hypoplasia)
-Most die

Most common: significant anatomical GU anomalies but NORMAL renal function

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Prune Belly Presentation?
What affects prognosis?
Treatment?

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-Shriveled, prune-like abdominal wall
-Urinary tract abnormalities most affect prognosis

-Most have a dilated urinary tract
-Low-pressure, non-obstructive system
-May not require intervention
-Do orchioplexy early with abdiminoplasty
-Place on prophylactic Abx to prevent UTI
-Transplantation has good outcome
-Complicated by unusual bladder drainage