Cystic Kidney Variants in Childhood Outline Four Cases

Cystic Kidney Variants in Childhood

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

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

Normal Kidney

Normal Kidney Ultrasound

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

Case 1: Anna • Other Questions ? – Gross Hematuria: once or twice after falling in gymnastics – Hypertension: Chart review shows • BP: 120 -122/85 – 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

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

Case 1: Anna • Laboratory data: – UA: SG 1. 030, p. H 5. 5, protein 1+, large blood • Micro: eumorphic RBCs 20+, 0 casts, 0 WBCs – Renal Function panel: normal – GFR 105 ml. min/1. 73 m 2 – Normal CBC

Radiology

Gross Anatomy

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

Genetics • PKD 1 – chromosome 16 encodes polycystin-1 • PKD 2 – chromosome 14 encodes polycystin-2 • PKD 3

Complications • Common – 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

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

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

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

Questions ?

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

Radiology

Gross Anatomy

Multicystic Dysplastic Kidney (753. 15) • Causes – Obstruction uropathy in utero – Embryo dysplasia from vesicoureteral reflux – In utero dysplasia

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

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

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

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

Prenatal History • Oligohydramnios • Pulmonary hypoplasia • Enlarged echogenic kidneys

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

Radiology

Gross Anatomy

Genetics – AR PCKD (753. 14) • PKHD 1 has been cloned – encodes fibrocystin • Not available commercially

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

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

Name That Tune • Diagnosis: Narcissistic – Beauty obsession • Burning • Pussy Cat Dolls

Case 4: Denise • 13 year old black female – Polyuria, enuresis, poor growth and high blood pressure – Urinalysis for sports exam shows SG 1. 004 and protein 3+ – Pediatrician called an immediate renal consult for labs

Denise’s labs • • Metabolic acidemia Slight hyponatremia Normal potassium Elevated creatinine at 9. 0 mg/dl and BUN 150 • Hypocalcemia and slight hyperphosphatemia

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

Gross Anatomy

Genetics • NPH – (juvenile): encodes NPHP 1 (nephrocystin) – Association with retinitis pigmentosa • NPH 2 (infantile): ERSD in first 2 years • NPH 3 (adolescent): Senior-Loken syndrome • NPH 4 -- nephroretinin

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!

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

Questions ?