Neonatal asphyxia and renal failure as the presentation of non-inherited protein C deficiency

Abstract

Inherited or acquired protein C (PC) deficiency leads to thromboembolic events. Plasma PC activity in infancy is physiologically lower than in adults. We describe a case of neonatal asphyxia and acute renal failure associated with isolated PC deficiency. A full-term male infant was born to a healthy mother by caesarean section because of fetal distress. The small-for-gestational age infant showed 2 and 7 of Apgar scores at 1 and 5 minutes, respectively. Hypercoagulability required repeated infusions of fresh frozen plasma. Coagulation study revealed PC activity, 6%, protein S activity, 61%, and high D-dimer levels, along with normal factor VII activity and absent vitamin K deficiency. Anticoagulant and activated PC therapy improved coagulopathy and nephropathy. Imaging analyses indicated no visceral infarctions. Renal function and PC activity have been slowly normalized until 6 months of age. He had no PROC mutation or PC-deficient parents. Selective PC deficiency may occur as an acquired cause of hypercoagulable crisis in the stressed newborn.

Slow Elevation in Protein C Activity without a PROC Mutation in a Neonate with Intracranial Hemorrhage

“… 2 Two of seven Japanese PC-deficient patients who underwent the PROC gene test had no mutation. 1 As in our case and a previous case without a PROC mutation, 5 low PC activity during the early infantile period increased more slowly than the PS activity.…”

Diagnostic challenge of the newborn patients with heritable protein C deficiency

“…Forty-one infants who had thrombotic events within 28 days after birth and received the genetic tests were collected from the Japanese registry for pediatric PC deficiency. Twenty-three out of 38 patients had thrombotic events and received the genetic study for PC, PS and/or AT genes at Kyushu University from 1993 to 2016, and 18 of them received the diagnosis of PC deficiency from all publications and meeting reports from 1981 to 2016 [15–21]. The information was based on the clinical network consisting of 111 perinatal care centers in Japan from 2011 to 2016.…”

Protein C deficiency as the major cause of thrombophilias in childhood

“…Severe to moderately severe PC activity (<0.1 U/mL or <10%) could occur and often led to thrombosis in the stressed newborns as non-inherited PC deficiency. Matsunaga et al 23 recently described a case of neonatal asphyxia and acute renal failure associated with isolated PC deficiency. The term infant had 6% of PC activity, 61% of PS activity, but no mutations in the promoter and coding regions of PROC.…”