Cystic Kidney Variants in Childhood

Outline Four Cases Match the song with medical diagnosis 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, 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

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 PKD1 – chromosome 16 encodes polycystin-1

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

Name That Tune Physical Exam Finding: Artist: Johnny Cash 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

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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) PKHD1 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

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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 NPHP1 (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

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