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. 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 / Ucx LP: Glu56, WBC 0, RBC 533/ CSF Cx  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

On 1 st day of admission urine culture positive (24hrs): E. Coli – cfu On 2 nd day E. Coli resistant to Ampicillin and intermediate to Ampicillin/clavunalate  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

 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.

 Potter Syndrome: Bilateral renal Agenesia  Potter facies  Oligohydramnios  Die after delivery because of hypoplastic lungs  Potter phenotype include different kinds of renal anomalities

 AR disorder with incidence of 1:10000 to  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.

 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%.

 Most common hereditary kidney disease: 1/  Genes: PKD1 (80%) and PKD2 (20%)  Bilateral enlarged kidneys with medullar and cortical cysts  Clinical manifestations in 4 th or 5 th decade of life.  Some symptoms in children are hematuria, flank pain, abdominal masses, HTN and UTI

 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.

 Renal dysgenesis: dysplastic, hypoplastic (hypodysplastic) and cystic.  Dysplasia: focal/diffuse primitive structures  Cystic dysplasia / Multicystic dysplasia  Unilateral  1/2000 – 4000 newborns

TGF – β and IGF – 2 (?)

 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

 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 m 3 BSA

Management and etiology of the unilateral multicystic dysplastic kidney: a review. David S. Hains. Pediatr Nephrol (2009) 24:233–241

 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

 58 patients with MCKD  Compare US (retrospective) and MRI (prospective), only 1 nuclear scan…?????!?!??!?!

 Case report:2mo F, MCKD, non functioning, HTN (on atenolol)  After the nephrectomy remained normotensive FU 1 year  Hypothesis: remaining functional cells produce renin

 14 patients went to minimal invasive retroperitoneoscopic nephrectomy at 23mo not seen by US. No complications  Total involution in all the cases.

 200 patients, 5 had infundibular stenosis with reflux. (20 years)  Consider to be an expected malformation part of the disease spectrum

 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