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BRIEF REPORT
Year : 2020  |  Volume : 3  |  Issue : 1  |  Page : 24-27

Continuous renal replacement therapy in a preterm neonate with hyperammonemia secondary to a rare disease


1 Pediatric Nephrology Section, Department of Pediatrics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia
2 Pediatric Nephrology Section, Department of Pediatrics, King Faisal Specialist Hospital and Research Centre; College of Medicine, Alfaisal University, Riyadh, Saudi Arabia
3 College of Medicine, Alfaisal University; Pediatric Critical Care Section, Department of Pediatrics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia
4 Pediatric Critical Care Section, Department of Pediatrics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia
5 Department of Ambulatory Care Nursing, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia

Correspondence Address:
Weiam Almaiman
Department of Pediatrics (MBC 58), King Faisal Specialist Hospital and Research Center, P.O.B. 3354, Riyadh 11211; College of Medicine, Alfaisal University, Riyadh
Saudi Arabia
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/AJPN.AJPN_9_20

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We report a newborn baby girl with a rare cause of hyperammonemia, in which a session of continuous renal replacement therapy (CRRT) was performed successfully despite the child's small size. The baby was born at 34 weeks' gestation with a birth weight of 2.2 kg and was referred on day 4 of life with lethargy, bradycardia, hypothermia, hypoglycemia, and metabolic acidosis associated with hyperammonemia. Following the insertion of the GamCath line, CRRT was performed using continuous venovenous hemodialysis modality, Ultraflux AV Paed dialyzer (Fresenius Medical Care), and multiFiltrate pediatric kit. Over 19 h of therapy, serum ammonia level reduced from >700 μmol/L to 103 μmol/L. Next-generation sequencing revealed a homozygous pathogenic variation in SLC25A20 (NM_000387; exon2; c.109C>T; p.R37X), leading to a diagnosis of carnitine-acylcarnitine translocase deficiency. The child succumbed during a subsequent hospital stay. This case instructively informs on the feasibility and efficacy of CRRT in the management of neonatal hyperammonemia.


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