Febrile Toddler with Hypertension

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ESPR168
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History: 2-year-old Hispanic girl presented with a high-grade fever for one day without any focus. Born to non-consanguineous parents, she had hypotonia as a newborn leading to the diagnosis of a sporadic EBF3 gene mutation. She receives regular occupational, speech therapies for global developmental delay without other medical problems. 

Physical exam: On presentation, she was febrile (104F) but clinically stable with systolic BP >95%tile. Other remarkable findings include a non-verbal toddler in 50%tile for height and weight, normocephalic head, strabismus, marked insensitivity to pain, and generalized hypotonia in all four limbs. 

Laboratory and Imaging: Initial labs showed normal urinalysis, anion gap metabolic acidosis with elevated BUN: Creatinine (49:1.1), and an eGFR of 33.4mL/min/1.73m2, which raised the suspicion for underlying kidney disease. Renal ultrasound showed bilateral hydroureter with hydronephrosis and renal cortical enhancement. A follow-up Voiding CystoUrethrogram (VCUG) showed grade IV bilateral vesicoureteral reflux (VUR) without an underlying obstruction. Our patient's overall clinical status improved with a BUN: Cr of (32:0.9) and a near-normal electrolyte panel and hence, was discharged with UTI prophylaxis and a follow-up with pediatric nephrology. 

Final Diagnosis: Chronic Kidney Disease secondary to an underlying mutation in the EBF3 gene.

Discussion: EBF(Early B-cell Factor) belongs to a family of transcription factors required for the normal development and differentiation of various cell lines and patients reported with EBF3 mutation have classic facial dysmorphism, developmental delay, severe neurological, skeletal, and varying degrees of renal involvement. As per the pediatric CKD guidelines by Furth et al, our patient classified as Stage B (GFR class 3b, urine P/C <0.5) is predicted to have a good prognosis with a time to significant event (i.e., 50% decline in renal function or initiation of dialysis) being anywhere between 3-10 years. Isolated VUR itself might not affect the prognosis of children with CKD as is expected in our case. 

Our case highlights the fact that the identification of various organ system involvement in the absence of a focus can be challenging in children. With incidental identification of CKD and VUR, ours is the first reported patient with early onset of advanced renal disease and severe reflux pathology in EBF3 cohorts. Pediatric CKD although uncommon has an increased burden on healthcare outcomes and, given the lack of screening guidelines for renal involvement in patients with EBF mutations, physicians should retain a high index of suspicion for early diagnosis and management based on clinical presentation.

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Department of Pediatrics, BronxCare Health System
Department of Pediatrics, BronxCare Health System
Department of Pediatrics, BronxCare Health System
Department of Pediatrics, BronxCare Health System

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