Longitudinal assessment of vascular calcification in generalized arterial calcification of infancy

Generalized arterial calcification of infancy in a neonate with acute kidney injury: A rare case report

“…GACI is an inherited autosomal recessive disease with an estimated frequency of 1 in 200,000 people [1] . GACI type 1, which is seen in 75% of cases, is caused by mutations in the ENPP1 gene, and GACI type 2 is caused by mutations in ABCC6 gene, seen in 10% of cases [1 , 2 , 6] . Novel variations in these genes are increasinglt being reported in the literature [7] .…”

“…Generalized arterial calcification of infancy (GACI) is a rare autosomal recessive genetic disorder characterized by diffuse calcification of large and medium-sized arteries like the aorta, renal, pulmonary, cerebral, and mesenteric arteries [1 , 2] . Although cases of prenatal diagnosis have been reported, some patients are diagnosed postmortem at the earliest [3 , 4] .…”

“…Most patients die within the first 6 months of life despite intensive therapy due to the rapid progression of arterial stenosis and heart failure [3 , 5 , 6] . There are rare reports of spontaneous resolution of the calcifications and cases of successful treatment with bisphosphonates and other experimental drugs [1 , 2] . Although the clinical presentation of GACI varies widely, a predominant feature of acute kidney injury has rarely been reported in the literature.…”

A previously healthy 3-year-old female with hypertension, proteinuria, and hypercalciuria

“…Her left ventricular hypertrophy gradually eased (Table 5 ) which may be related to smooth blood pressure control. Arterial stenosis, which has been reported, does not necessarily occur at the same time as arterial calcification, and can occur over time in the same vessels as calcification [ 22 ]. Our patient also had no evidence of arterial stenosis at the time of diagnosis.…”

“…The goal of early diagnosis and treatment in children with GACI is to promote the regression of arterial calcifications and cessation of the development of arterial stenoses. Arterial calcifications may decrease or disappear spontaneously, after treatment, but arterial stenoses usually persist that can cause significant clinical ischemic complications [ 22 ]. Classic drugs that promote the regression of arterial calcification are bisphosphonates such as etidronate, pamidronate, and risedronate.…”