It’s Time for Renal Board Review

RENAL THINGS YOU NEED TO KNOW BUT NEVER LEARN MUCH ABOUT OTHERWISE!

WELCOME TO…………

Renal cystic disorders in childhoodFour types

◦ADPKD◦Cystic renal dysplasia◦ARPKD◦Medullary cystic disease

ADPKDAutosomal dominantAdult type (adult onset disorder)Variable phenotypic expressionCan present with

◦Flank/back pain◦Hematuria◦Urinary frequency◦Palpable kidney◦ Inguinal hernia◦HTN◦Concentrating defects

ADPKDLarge cystsBILATERAL!Enlarged kidneysAsymmetricalAll parts of the

nephron affectedWhat other organ

may have cysts?LIVER! Spleen,

Pancreas

ADPKDYou are seeing a kid in the ER for

“worst headache ever”. He is with his grandmother who you note has an AV fistula in her R arm and has mild dysphasia.

What are you concerned about?Ruptured intrancranial aneurysmMost complications are seen in adults

◦Colonic diverticula◦Mitral valve prolapse◦Renal failure

Question12 yo girl, otherwise healthy

except for persistent microscopic hematuria. PGM died at age 51 while on dialysis. Her BP is 155/88 and she has bilateral flank masses. What is the preferred diagnostic procedure?

Renal UltrasoundWhat do you expect to find?

ADPKDLarge cystsBILATERAL!Enlarged kidneysAsymmetricalAll parts of the

nephron affectedWhat other organ

may have cysts?LIVER! Spleen,

Pancreas

Imaging and Genetic testing25 yo mother of a 7 yo girl in your

practice has just found out that she has two cysts on her right kidney. Her 60 yo father has ADPKD and is on renal dialysis.

The most appropriate management for your patient is◦Annual renal US◦Annual serum creatinine measurement◦Biannual UA◦Genetic testing◦Observation and education

Imaging and Genetic testing in ADPKDObservation and educationObserve for hematuria, HTN, flank painEducate them about their risk so they

can make their own decisions when they reach adulthood regarding screening and testing

In general, children at risk for an inherited adult-onset disorder should not undergo testing for that disorder if they are asymptomatic

ARPKDAutosomal

recessivePresents in

infancyInfantile formBILATERAL

enlarged kidneysCongenital

hepatic fibrosis is always present

ARPKD

Question3 yo girl with hematemesis. Pale, anicteric.

Her BP is 80/40 and P 110. On exam, you note HSM. PMH: enlarged cystic kidneys diagnosed at 1 yo.

What’s the underlying cause of her bleeding?◦ Alpha 1 antitrypsin deficiency◦ Autoimmune hepatitis◦ Biliary atresia◦ Cavernous transformation of the portal vein◦ Congenital hepatic fibrosis

What kidney problem does she have?ARPKD

APKD vs ARPKDCysts in pancreas or spleen?ADPKDCerebral aneurysms?ADPKDOligohydramnios and h/o

mechanical ventilation?ARPKDBilateral involvement?BOTH!!!

APKD vs ARPKDNormal RUS in both parents?ARPKDHepatic involvement?ARPKD

◦Hepatic fibrosis or biliary obstructionLiver cysts?ADPKD

That’s my boy! Go Hornets!

Cystic Renal DysplasiaDeficient renal parenchyma (hypoplasia)Abnormally differentiated parenchyma

(dysplasia)Multicystic dysplastic kidneys is most

common cystic disorder◦Poor weight gain◦Pallor◦Emesis◦Tachypnea◦Metabolic acidosis secondary to renal

insufficiency

Unilateral renal hypoplasia/dysplasia

Cystic Renal DysplasiaTrue or False?Cystic dysplasia may be a major

component of several syndromesTRUE

◦VATER◦CHARGE◦Beckwith Wiedemann◦Noonan◦Cornelia de Lange

Multicystic dysplasia

Multicystic dysplasiaMost common cystic disorderMost common cause of abdominal mass in

newbornsUsually UNILATERALAffected kidney usually dysplatic and non-

functionalCall surgery for a nephrectomy?NO!Why?Most multicystic kidneys spontaneously

involuteRarely cause HTN, tumor, or infection

PREP QuestionNeonate with an abdominal mass. RUS

shows normal right kidney and enlarged left kidney with multiple non-communicating cysts. Renal scan shows no function in the left kidney. What is the next step in evaluation of this neonate?◦Abdominal CT◦Abdominal MRI◦ IVP◦Renal scintigraphy (scan)◦VCUG

PREP QuestionVCUG!To evaluate GU tract

◦UPJ, VUR, PUV, megaurter, duplicated ureter

On RUS also see thin renal parenchyma and dysplasia

Multicystic dysplastic kidneysRemember MCKD…Usually unilateralEnlarged kidney with non-

communicating cysts and dysplasiaMCKD has NO functionPrognosis depends on involvement

of contralateral kidneyNeed VCUG to evaluate for other

GU anomalies

Fluids in MCKD patientsRestrict?Liberalize?Patients with renal dysplasia are

unable to conserve salt and water and concentrate their urine and are prone to dehydration.

If voiding established, liberalize their fluid intake.

Juvenile onset medullary cystic diseaseAutosomal recessivePolyuriaPolydipsiaConcentrating defectEneuriesisEye problems!

In Summary…Unilateral, non-functioning kidney

◦MCKDAssociated with other syndromes

◦MCKDBilateral; presents in infancy; hepatic

fibrosis◦ARPKD

Bilateral; adult onset disease; intracranial aneurysms◦ADPKD

Thursday night!!!!

QuestionA 2 month old is diagnosed with

a UTI. RUS demonstrates severe bilateral hydronephrosis.

Most likely diagnosis?◦ADPKD◦ARPKD◦PUV◦Renal dysplasia

PREP QuestionYou are evaluating a newborn

with lax abdominal musculature and bilateral undescended testes. Rest of PE is normal. Most likely urologic abnormailty?◦Hydronephrosis◦Renal cysts◦Ureterocele◦Ureteropelvic junction obstruction◦Vesicoureteral reflux

Prune –Belly SyndromeEagle-Barrett

SyndromeAbdominal

musculature absentRenal and GU

abnormalities◦ VUR 75%◦ Enlarged bladder◦ Urinary stasis◦ Cryptochordism

Infertility

◦ Hydronephrosis PUV, VUR, UPJ

QuestionYou are seeing a 6 yo

child with a history of infantile spasms and mental retardation. He is in your office for HTN and his creatinine is 1.2. He also has a hypopigmented macule over his abdomen and abdominal distension.

Diagnosis?

QuestionTuberous SclerosisWhat’s the most likely associated

renal abnormality?◦ADPKD◦ARPKD◦Renal angiomyolipoma◦MCKD

Renal angiomyolipomas are multiple soft tissue masses that stretch and distort the collecting system and cause renal enlargement

PREP QuestionYou are seeing a 10 yo male and a 13

yo female in clinic. Both have normal histories and exams. FH is positive for two uncles on HD who are deaf and a GF who died of kidney disease.

The boy’s UA shows moderate blood, negative protein and 20-30 RBC.

The girl’s UA shows trace blood and 5-10 RBC.

Diagnosis?

Alport’s syndromeHereditary progressive nephritisX linked dominant (85%)Autosomal recessive (15%)Affects kidney, cochlea, eyesAbnormal type IV collagenPersistent or recurrent hematuriaProteinuria increases as disease

progresses

PREP QuestionThe most accurate statement regarding

prognosis isA. The boy will develop ESRD; the girl will

not develop ESRDB. The chances of developing ESRD are

equal in the boy and the girlC. The boy will develop ESRD with hearing

deficits; the girl will not develop ESRDD. The boy will develop ESRD and

esophageal leiomyomatosis; the girl will develop only hearing deficits

E. The boy will develop ESRD and giant cell thrombocytosis

Alport’s syndromeProgressive renal failureHigh frequency sensorineural

hearing loss◦4000-8000 Hz

Abnormalities of lens of eyeMales affected earlier and more

severely than femalesFemales may have minor renal

insufficiency

PREP QuestionAn infant is born following a

pregnancy with no prenatal care. Reduced fundal height is noted at onset of labor. There are NRFHT. At birth, the infant has respiratory distress, a large flank mass on the left, and joint contractures. The infant looks like this:

PREP Question RUS shows a single left

multicystic and dysplastic kidney; the right kideny is absent. The best explanation for these findings is:◦Alport disease◦Congenital nephrotic syndrome◦Congenital Wilms tumor◦Oligohydramnios sequence◦Turner syndrome

Potter’s sequenceOligohydramnios from poor in

utero urine productionPulmonary hypoplasiaFetal compressionBilateral renal aplasia= true

Potter’s syndromeWhat is the most common

orthopedic complication?Clubbed feet

GO Hornets!

PREP QuestionA newborn is edematous but requires

fluid resuscitation at birth for respiratory distress and hypotension. He has an abnormal RUS. UOP is excellent.

Na 127 Cl 92 BUN 10 K 4.6 HCO3 27 Cr 0.7 Alb 0.7UA 4+ proteinUpr/Cr 43.5

Diagnosis?◦FSGS◦Minimal change disease◦Congenital nephrotic syndrome◦Membranous nephropathy

And the answer is…Congenital Nephrotic SyndromePresents at birthCystic malformation of the

kidneysLose massive quantities of

essential proteins for growth and development◦FTT and malnutrition

Defect in protein nephrin

What do you notice in these images?

Short neckfromfusedcervical vertebrae

Crossed renal ectopiaLeft ureter crossesmidline and insertsinto left side of bladder

Things that go together…Fused cervical vertebrae and crossed

renal ectopy (Also renal agenesis or duplication)

_ _ _P P _ _-_ E _ _ syndromeKLIPPEL-FEIL!Hypophosphatemia, normal calcium,

normal PTH, and a 1,25 hydroxy-vitamin D level that is inappropriately low for the level of hypophosphatemeia

_____?______ RicketsHypophosphatemic

Things that go together…Horseshoe kidney and

◦_ _ _ obsturction◦UPJ!

Cystic kidney disease and◦_ _ _ _ _ _ hypertension◦PORTAL! (Hepatic fibrosis)

LAST BUT NOT LEAST…LEARN ABOUT THE KIDNEY BECAUSE

THE KIDNEY IS EVERYWHERE YOU LOOK!Thanks for your attention!