1. It’s Time for Renal Board Review

2. RENAL THINGS YOU NEED TO KNOW BUT NEVER LEARN MUCH ABOUT OTHERWISE! WELCOME TO…………

3. Renal cystic disorders in childhood Four types ◦ ADPKD ◦ Cystic renal dysplasia ◦ ARPKD ◦ Medullary cystic disease

4. ADPKD Autosomal dominant Adult type (adult onset disorder) Variable phenotypic expression Can present with ◦ Flank/back pain ◦ Hematuria ◦ Urinary frequency ◦ Palpable kidney ◦ Inguinal hernia ◦ HTN ◦ Concentrating defects

5. ADPKD Large cysts BILATERAL! Enlarged kidneys Asymmetrical All parts of the nephron affected What other organ may have cysts? LIVER! Spleen, Pancreas

6. ADPKD You 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 aneurysm Most complications are seen in adults ◦ Colonic diverticula ◦ Mitral valve prolapse ◦ Renal failure

7. Question 12 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 Ultrasound What do you expect to find?

8. ADPKD Large cysts BILATERAL! Enlarged kidneys Asymmetrical All parts of the nephron affected What other organ may have cysts? LIVER! Spleen, Pancreas

9. Imaging and Genetic testing 25 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

10. Imaging and Genetic testing in ADPKD Observation and education Observe for hematuria, HTN, flank pain Educate 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

11. ARPKD Autosomal recessive Presents in infancy Infantile form BILATERAL enlarged kidneys Congenital hepatic fibrosis is always present

12. ARPKD

13. Question 3 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

14. APKD vs ARPKD Cysts in pancreas or spleen? ADPKD Cerebral aneurysms? ADPKD Oligohydramnios and h/o mechanical ventilation? ARPKD Bilateral involvement? BOTH!!!

15. APKD vs ARPKD Normal RUS in both parents? ARPKD Hepatic involvement? ARPKD ◦ Hepatic fibrosis or biliary obstruction Liver cysts? ADPKD

16. That’s my boy! Go Hornets!

17. Cystic Renal Dysplasia Deficient 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

18. Unilateral renal hypoplasia/dysplasia

19. Cystic Renal Dysplasia True or False? Cystic dysplasia may be a major component of several syndromes TRUE ◦ VATER ◦ CHARGE ◦ Beckwith Wiedemann ◦ Noonan ◦ Cornelia de Lange

20. Multicystic dysplasia

21. Most common cystic disorder Most common cause of abdominal mass in newborns Usually UNILATERAL Affected kidney usually dysplatic and non- functional Call surgery for a nephrectomy? NO! Why? Most multicystic kidneys spontaneously involute Rarely cause HTN, tumor, or infection

22. PREP Question Neonate 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

23. PREP Question VCUG! To evaluate GU tract ◦ UPJ, VUR, PUV, megaurter, duplicated ureter On RUS also see thin renal parenchyma and dysplasia

24. Multicystic dysplastic kidneys Remember MCKD… Usually unilateral Enlarged kidney with non-communicating cysts and dysplasia MCKD has NO function Prognosis depends on involvement of contralateral kidney Need VCUG to evaluate for other GU anomalies

25. Fluids in MCKD patients Restrict? 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.

26. Juvenile onset medullary cystic disease Autosomal recessive Polyuria Polydipsia Concentrating defect Eneuriesis Eye problems!

27. In Summary… Unilateral, non-functioning kidney ◦ MCKD Associated with other syndromes ◦ MCKD Bilateral; presents in infancy; hepatic fibrosis ◦ ARPKD Bilateral; adult onset disease; intracranial aneurysms ◦ ADPKD

28. Thursday night!!!!

29. Question A 2 month old is diagnosed with a UTI. RUS demonstrates severe bilateral hydronephrosis. Most likely diagnosis? ◦ ADPKD ◦ ARPKD ◦ PUV ◦ Renal dysplasia

30. PREP Question You are evaluating a newborn with lax abdominal musculature and bilateral undescended testes. Rest of PE is normal. Most likely urologic abnormailty? ◦H◦H ydronephrosis ◦R◦R enal cysts ◦U◦U reterocele ◦U◦U reteropelvic junction obstruction ◦V◦V esicoureteral reflux

31. Prune –Belly Syndrome Eagle-Barrett Syndrome Abdominal musculature absent Renal and GU abnormalities ◦ VUR 75% ◦ Enlarged bladder ◦ Urinary stasis ◦ Cryptochordism  Infertility ◦ Hydronephrosis  PUV, VUR, UPJ

32. Question You 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?

33. Question Tuberous Sclerosis What’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

34. PREP Question You 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?

35. Alport’s syndrome Hereditary progressive nephritis X linked dominant (85%) Autosomal recessive (15%) Affects kidney, cochlea, eyes Abnormal type IV collagen Persistent or recurrent hematuria Proteinuria increases as disease progresses

36. PREP Question The most accurate statement regarding prognosis is A. The boy will develop ESRD; the girl will not develop ESRD B. The chances of developing ESRD are equal in the boy and the girl C. The boy will develop ESRD with hearing deficits; the girl will not develop ESRD D.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

37. Alport’s syndrome Progressive renal failure High frequency sensorineural hearing loss ◦4◦4 000-8000 Hz Abnormalities of lens of eye Males affected earlier and more severely than females Females may have minor renal insufficiency

38. PREP Question An 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:

40. 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

41. Potter’s sequence Oligohydramnios from poor in utero urine production Pulmonary hypoplasia Fetal compression Bilateral renal aplasia= true Potter’s syndrome What is the most common orthopedic complication? Clubbed feet

42. GO Hornets!

43. PREP Question A newborn is edematous but requires fluid resuscitation at birth for respiratory distress and hypotension. He has an abnormal RUS. UOP is excellent.  Na 127Cl 92BUN 10  K 4.6HCO3 27Cr 0.7  Alb 0.7UA 4+ proteinUpr/Cr 43.5 Diagnosis? ◦ FSGS ◦ Minimal change disease ◦ Congenital nephrotic syndrome ◦ Membranous nephropathy

44. And the answer is… Congenital Nephrotic Syndrome Presents at birth Cystic malformation of the kidneys Lose massive quantities of essential proteins for growth and development ◦ FTT and malnutrition Defect in protein nephrin

45. What do you notice in these images? Short neck from fused cervical vertebrae Crossed renal ectopia Left ureter crosses midline and inserts into left side of bladder

46. Things that go together… Fused cervical vertebrae and crossed renal ectopy (Also renal agenesis or duplication) _ _ _P P _ _-_ E _ _ syndrome KLIPPEL-FEIL! Hypophosphatemia, normal calcium, normal PTH, and a 1,25 hydroxy-vitamin D level that is inappropriately low for the level of hypophosphatemeia _____?______ Rickets Hypophosphatemic

47. Things that go together… Horseshoe kidney and ◦ _ _ _ obsturction ◦ UPJ! Cystic kidney disease and ◦ _ _ _ _ _ _ hypertension ◦ PORTAL! (Hepatic fibrosis)

48. LAST BUT NOT LEAST… LEARN ABOUT THE KIDNEY BECAUSE

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