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Generalized arterial calcification of infancy: Different clinical courses in two affected siblings
Author(s) -
Cheng KunShan,
Chen MingRen,
Ruf Nico,
Lin ShuanPei,
Rutsch Frank
Publication year - 2005
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.30800
Subject(s) - sibling , medicine , calcification , genotype , disease , pediatrics , cardiology , genetics , biology , gene , psychology , developmental psychology
Generalized arterial calcification of infancy (GACI) is a rare autosomal recessive disease caused by mutations in ENPP1 . Due to extensive calcification of the arterial media associated with intimal proliferation leading to vascular occlusion, most affected children die within the first 6 months of life. We report on two Taiwanese siblings with an identical genotype, but different clinical course. The male sibling developed heart failure and severe hypertension, and died at the age of 6 weeks despite of treatment with bisphosphonates, ACE inhibitors, and hydralazine. The subsequent female, who was monitored closely pre‐ and post‐natally, is having an uncomplicated clinical course up to the age of 1½ year now. There were similar characteristic sonographic and roentgenographic findings in both siblings in early infancy. In both siblings, the same compound heterozygous mutations (c.1025G > T [p.Gly342Val] and c.1112A > T [Tyr371Phe]) in ENPP1 were identified. Despite the same genotype and similar sonographic and radiographic features in early infancy, the phenotype of GACI can vary to a great extent within one family. © 2005 Wiley‐Liss, Inc.