1. Cystic Kidney Variants in Childhood

2. Outline Four Cases Match the song with medical diagnosis Presentation
Physical Examination
Laboratory
Renal US
Gross Anatomy
Genetics
Match the song with medical diagnosis

3. Name that tune Disease: Obesity and metabolic disease
Artist: Jimmy Buffet
Fans: Parrot Heads

4. Normal Kidney

5. Normal Kidney Ultrasound

6. Case 1 Anna – 7 year old black female
Presents to the ED with two day history of right flank pain
No fever, no n/v/d, slight abdominal pain
No dysuria, urgency or frequency
Occasional Headache – No relief with Tylenol
Occasional visit to the pediatrician showed intermittent murmur

7. Case 1: Anna Other Questions ?
Gross Hematuria: once or twice after falling in gymnastics
Hypertension: Chart review shows
BP: /85
History of cystic disease or end-stage renal disease in family members:
Mother: bilateral cystic kidney
Maternal brothers: one with transplant and one with on dialysis
Grandfather: Died on dialysis

8. Case 1: Anna Physical Exam BP: 128/88, Normal temperature
Right sided mass felt in abdomen
Cardiac murmur heard
Lungs: bilateral CTA
0 HSM
0 edema

9. Case 1: Anna Laboratory data:
UA: SG 1.030, pH 5.5, protein 1+, large blood
Micro: eumorphic RBCs 20+, 0 casts, 0 WBCs
Renal Function panel: normal
GFR 105 ml.min/1.73m2
Normal CBC

10. Radiology

11. Gross Anatomy

12. AD PCKD (753.13) Under 2 years old – two cysts diagnostic
Over 3 years old – three cysts diagnostic
Under 2 year old with family history

13. Genetics PKD1 – chromosome 16 encodes polycystin-1

14. Complications Common Rare Very rare
Gross hematuria especially after hematuria
Urinary tract infections
No increased risk of VUR though
Rare
Liver cystic disease
Pancreas cystic disease
Ovarian cysts
Renal Stones
Very rare
Berry aneurysms
Mitral valve prolapse

15. Name That Tune Physical Exam Finding: Artist: Johnny Cash
Ambiguous Genitalia
Artist: Johnny Cash
Nickname: “The Man in Black”

16. Case 2: Toddler Murphy
2.5 year old white presents to the clinic with X-ray
Very Nervous Mother holding the X-ray
Toddler is running around the office, getting into everything and laughing
No history UTI
No edema, no FTT
Doing extremely well except some constipation with potty training

17. Case 2: Toddler Murphy
Mother states that a X-ray was done for assessment of stool retention
KUB shows a large right kidney seen
Constipation is present
Mother is in tears concerned about a tumor
She received a stat consult to see you

18. Questions ?

19. Case 2: Toddler Murphy
Normal BP, normal PE and no palpable kidney or mass in the abdomen
Normal UA with no sediment
No labs done
X-ray shows the large kidney on the right

20. Radiology

21. Gross Anatomy

22. Multicystic Dysplastic Kidney (753.15)
Causes
Obstruction uropathy in utero
Embryo dysplasia from vesicoureteral reflux
In utero dysplasia

23. How do you treat ?
Yearly renal US to ensure the other kidney has compensatory growth
Check BP at 6 month intervals
Check 6 month urine for protein
Check yearly serum creatinine

24. Why remove the dysplastic kidney?
Uncontrolled HTN
Recurrent Infection in the dysplastic kidney
Slightly higher incidence of VUR in the MCDK

25. Name That Tune Diagnosis: Depression or adjustment disorder
Lost your lady
Lacking Melatonin
Artist: Bill Withers

26. Case 3: Holly Ann
2 day old intubated infant with high ventilator pressure settings
Renal consulted for bilateral large kidneys and increased creatinine
No family history of kidney disease
BP is elevated
Jaundiced infant
Low urine output

27. Prenatal History Oligohydramnios Pulmonary hypoplasia
Enlarged echogenic kidneys

28. Case 3: Holly Ann BP: 110-70 Intubated ill infant
Large (visualized by naked eye) kidneys – massively large and easily felt
Hepatomegaly and jaundice present
Edema generalized on the infant

29. Radiology

30. Gross Anatomy

31. Genetics – AR PCKD (753.14)
PKHD1 has been cloned – encodes fibrocystin
Not available commercially

32. Diagnosis Enlarged, echogenic kidney with poor C-M differentiation
One or more of the following:
Absence of cysts in both parents (>30)
Hepatic fibrosis or biliary dysplasia
Previous affected sibling
Consanguinity

33. Complications Pulmonary Hypoplasia – Killer!
Hepatic fibrosis and hepatic portal HTN
Renal failure (80%)
Severe HTN

34. Name That Tune Diagnosis: Narcissistic Pussy Cat Dolls
Beauty obsession
Burning
Pussy Cat Dolls

35. Case 4: Denise 13 year old black female
Polyuria, enuresis, poor growth and high blood pressure
Urinalysis for sports exam shows SG and protein 3+
Pediatrician called an immediate renal consult for labs

36. Denise’s labs Metabolic acidemia Slight hyponatremia Normal potassium
Elevated creatinine at 9.0 mg/dl and BUN 150
Hypocalcemia and slight hyperphosphatemia

37. Case 4: Denise-Radiology
Small kidneys bilaterally
No cysts
No hydronephrosis
Poor corticomedullary differentation

38. Gross Anatomy

39. Genetics NPH – (juvenile): encodes NPHP1 (nephrocystin)
Association with retinitis pigmentosa
NPH 2 (infantile): ERSD in first 2 years
NPH 3 (adolescent): Senior-Loken syndrome
NPH 4 -- nephroretinin

40. Medullary Cystic Kidney Disease(753.16)
Always leads to ESRD (early teenager)
Most common genetic cause of ESRD
Bland sediment
Concentration defect
No HTN
Genetic testing available
Clinical call on diagnosis
Eye exam by opthlo is a must!

41. Name that Tune Diagnosis: Petite Mal Genre: Country
Artist: Dwight Yoakum

42. Questions ?