Diagnostic challenge of the newborn patients with heritable protein C deficiency.

ABSTRACT:

Abstarct

OBJECTIVE: The diagnosis of neonatal-onset protein C (PC) deficiency is challenging. This study aimed to establish the neonatal screening of heritable PC deficiency in Japan.

Study design

We determined the changes in plasma activity levels of PC and protein S (PS) in healthy neonates, and studied newborn patients with PROC mutation in the Japanese registry.

Result

Physiological PC and PS levels increased with wide range. The PC/PS-activity ratios converged after birth. The PC/PS-activity ratios of 19 patients with biallelic mutations, but not, 9 with monoallelic mutation, were lower than those of 13 without mutation. The logistic regression analyses established a formula including two significant variables of PC activity (cut-off < 10%, odds ratio = 30.0) and

SUBMITTER: Ichiyama M 

PROVIDER: S-EPMC6760599 | biostudies-literature | 2019 Feb

REPOSITORIES: biostudies-literature