Transcript CASE CONFERENCE

Alvaro Coronado
 57d
old female with one day with
fever at home (101,5).
 Mild runny nose, no cough, no
vomiting.
Mild diarrhea for 3 days non
bloody.
 Normal feedings: 2oz every 2-3
hours.
 No sick contacts
ER: T102.2, HR 125, RR36, Sat99%
Normal PE.
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CBC: WBC 16.4 (2%bands, 53% segm 14%lymph),
Hgb 8.1, Hct 26.9, Platelet count 485 / BCx
UA: WBC 7, RBC 0, Epi Cells 1, Bacteria few,
LE TR, nitrite neg, protein neg, Spec. Gravity
1.011 / Ucx
LP: Glu56, WBC 0, RBC 533/ CSF Cx
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Started on Ceftriaxone 100mg/Kg/day divided
q12hrs
 PMH:
Fetal US: R Polycystic kidney
Normal NB course. Repeated US,
nuclear scan:
- R multicystic dysplastic kidney,
non functional .
Started on amoxicillin prophilaxis
for 2 weeks.
 Gaining
weight, normal growing
 No surgeries
 FMHx negative, no kidney diseases
 SH lives with parents and sister
(3yo)
 NKDA, no medications
No fever during admission, normal PO. No
new symptoms.
Vitals: T98.6, HR144, RR38, Sat 100
PE unchanged, normal PE.
Plan:
RSV and FLU (negative)
BMP
135
5
109
22
6
0.3
73
9.5
On 1st day of admission urine culture positive
(24hrs):
E. Coli 50000 – 100000 cfu
On 2nd day E. Coli resistant to Ampicillin and
intermediate to Ampicillin/clavunalate
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US Mild fullness L renal pelvis, Atrophic R
kidney with cyst
BCx, CSFCx negative at 48hrs
Patient sent home with Keflex
FU at Renal in Jacobi
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Agenesia: associated with other congenital
anomalies (VATER).
Think in newborns with single umbilical
artery!!
Agenesia ≠ Aplasia
If kidney not seen in US consider a Nuclear
Scan to look for ectopic kidney.
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Potter Syndrome: Bilateral renal Agenesia
Potter facies
Oligohydramnios
Die after delivery because of hypoplastic
lungs
Potter phenotype include different kinds
of renal anomalities
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AR disorder with incidence of 1:10000 to
40000
Enlarged kidney with cysts between
functional nephrons. Leads to fibrosis
and tubular atrophy resulting in renal
failure
Also Liver fibrosis (behaves like
congenital hepatic fibrosis)
Abnormal fibrocystin (gene PKHD1)
Clinical presentation:
 Bilateral flank masses, respiratory
problems, oligohydramnios, pulmonary
hypoplasia, resp. distress…
 Hypertension
 Initial renal function normal in 20-30%
 Liver failure with portal HTN
US:
No cysts. Enlarged kidneys, hyperechogenic
with poor corticomedullary differentiation.
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Treatment: supportive. Ventilation in
neonatal period. Management of
hypertension, electrolytes and renal
failure.
Prognostic: 30% die in the neonatal
period.If they survive the first year the
15yr survival is 70-80%.
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Most common hereditary kidney disease:
1/500-1000
Genes: PKD1 (80%) and PKD2 (20%)
Bilateral enlarged kidneys with medullar
and cortical cysts
Clinical manifestations in 4th or 5th
decade of life.
Some symptoms in children are
hematuria, flank pain, abdominal masses,
HTN and UTI
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US: bilateral enlarged kidney and cysts. Early
phase can be normal size and some changes are
only unilateral (like MCKD)
Systemic: cysts in liver, pancreas, spleen
and ovaries.
 Intracranial aneurysm, prevalence of 5%.
 Mitral valve prolapse in 12% of children
 Renal cell carcinoma has been reported
in association with ADPCKD
Diagnosis:
 Enlarged kidneys in patient with first
degree affected relative. Findings will
appear later.
Treatment: supportive. HTN: use ACE-I.
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Renal dysgenesis: dysplastic,
hypoplastic (hypodysplastic) and
cystic.
 Dysplasia: focal/diffuse primitive
structures
 Cystic dysplasia / Multicystic dysplasia
 Unilateral
 1/2000 – 4000 newborns
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TGF – β and IGF – 2 (?)
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Most common cause of abdominal mass
in newborns
Contralateral hydronephrosis in 5-10% of
patients.
Nuclear SCAN (?): non functioning
VCUG (?): 15% have reflux
Complete involution at 5 to 7 yo
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17 cases MCKD 10w/ and 7w/o obstruction
Pathology of fetuses – immunohistochemistry
TGF-2 absent and IGF-2 overexpressed in
MCKD
A review of the literature:
 involution rates 19–73%,
 Compensatory hypertrophy of the
contralateral kidney occurs from 24–81%
 Estimated glomerular filtration rates
(GFRs)
range from 86–122 ml/min/1.73 m3 BSA
Management and etiology of the unilateral multicystic
dysplastic kidney: a review. David S. Hains. Pediatr Nephrol
(2009) 24:233–241
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Of the 50 patients, 19 underwent
nephrectomy, and the other 31 were
conservatively managed with clinical and US
or scan follow-up
Mean FU time 6 years. No complications,
normal creatinine and urea in both groups
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58 patients with MCKD
Compare US (retrospective) and MRI
(prospective), only 1 nuclear scan…?????!?!??!?!
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Case report:2mo F, MCKD, non functioning,
HTN (on atenolol)
After the nephrectomy remained
normotensive FU 1 year
Hypothesis: remaining functional cells
produce renin
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14 patients went to minimal invasive
retroperitoneoscopic nephrectomy at 23mo
not seen by US. No complications
Total involution in all the cases.
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200 patients, 5 had infundibular stenosis
with reflux. (20 years)
Consider to be an expected malformation
part of the disease spectrum
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Wilm´s tumor: no need for surveillance. (L3)
Hypertension: nephrectomy to be consider after
other causes have been excluded. (L3)
“complex” MCKD close FU to renal function,
“simple” normal life (L3)
VUR more risk. UTI more risk in “complex”
MCKD (L3)
Recommendations:
 Correct dx: US / Nuclear scan +/- (Gr. A)
 Clinical judgement before doing VCUG (Gr. D)
 “complex” vs “simple” (Gr. B)
- Complex: BP!!! / UTI (prophylaxis??!?)
- Simple: FU with US 12 and 24 mo to check
contralateral kidney
Multicystic dysplastic kidney in the neonate: the role of the
urologist, Karen Psooy, MD, FRCSC.Can Urol Assoc J
2010;4(2):95-7