Presentation
Idiopathic Infantile Arterial Calcification Presentation Le Boulanger G et al. (2010) An unusual severe vascular case of pseudoxanthoma elasticum presenting as generalized arterial calcification of infancy. [ ] 3. [symptoma.com]
They can present in the uterus with decreased fetal activity, increased fluid around the fetus (polyhydramnios); after birth they present with blush color to the skin (cyanosis), heart failure, high blood pressure, fast breathing, swelling, distended [nicklauschildrens.org]
Case presentation The clinical presentation was characterized by a severe early-onset of hypertension refractory to multiple therapy. [go.gale.com]
However, rare cases with later presentations have been reported [1, 3]. Without appropriate treatment, IIAC has a high morbidity and mortality rate. [hindawi.com]
Entire Body System
- Pain
[…] bone pain, bowed femora, and short stature. [symptoma.com]
[…] the child uses for pain, e.g., ouch, hurt. • Ask the child to give examples of pain (to identify the child’s understanding and use of words Chest Wall Pain: Costochondritis. [apotechsrl.it]
Beyond six months, the mortality rate significantly decreases among survivors, who may later develop ARHR2, characterized clinically by short stature, bone deformities and pain. [bone-abstracts.org]
Rickets leads to severe skeletal deformities, short stature, severe bone pain, and an increased risk of bone fractures. [inozyme.com]
The age of onset can be as early as the second decade of life, usually involving intense joint pain or calcification in the hands. [exeterlaboratory.com]
- Inflammation
[rareguru.com] Inflammation [rareguru.com] Inflammation However, inflammation suggestive of myocarditis could not be identified (Figures 2(b) and 2(c)). [symptoma.com]
However, inflammation suggestive of myocarditis could not be identified (Figures 2(b) and 2(c)). [hindawi.com]
Thus RAGE and S100A12 pathway are broadly tied to inflammation and vascular disease. [ncbi.nlm.nih.gov]
Infants with GACI may suffer from gastrointestinal complications such as ulcerating inflammation of the wall of the small intestine or obstruction due to stenosis. [gaciglobal.org]
- Short Stature
[jultrasoundmed.org] Short Stature As a consequence, GACI patients develop severe rachitic complications such as short stature and skeletal deformities. [symptoma.com]
Beyond six months, the mortality rate significantly decreases among survivors, who may later develop ARHR2, characterized clinically by short stature, bone deformities and pain. [bone-abstracts.org]
As a consequence, GACI patients develop severe rachitic complications such as short stature and skeletal deformities. [onlinelibrary.wiley.com]
ARHR2 is characterized by short stature, dental caries, and bone deformities, and biochemically by hypophosphatemia, hyperphosphaturia and elevated plasma alkaline phosphatase. The disease frequency is unknown. [clinicaltrials.gov]
Rickets leads to severe skeletal deformities, short stature, severe bone pain, and an increased risk of bone fractures. [inozyme.com]
- Congestive Heart Failure
[symptoma.com] Entire Body System Congestive Heart Failure […] with symptoms of congestive heart failure. [symptoma.com]
Patients with GACI suffer from hypertension, severe myocardial ischemia, and congestive heart failure and often die within 6 months of life. On the other end, PXE is associated with considerable morbidity, rarely with mortality. [moh-it.pure.elsevier.com]
Affected infants are usually diagnosed before birth or in the neonatal period with symptoms of congestive heart failure. Therapy with bisphosphonate has been used to treat the condition, but with inconsistent results. [humpath.com]
The cause of death is frequently myocardial infarction or stroke, and hypertension and congestive heart failure are common in fetuses and infants with GACI. [clinicaltrials.gov]
- Plethora
[bmcpediatr.biomedcentral.com] Plethora Chest radiography showed cardiomegaly and pulmonary plethora. Electrocardiography showed left ventricular hypertrophy and strain pattern. [symptoma.com]
These factors may be broadly categorized into two major causes, namely, an elevated calcium blood level (hypercalcemia) and tissue injury, both of which may be triggered by a plethora of conditions. [news-medical.net]
Extramedullary hematopoiesis of liver [9] Hypertrophy of myocardium Bright and hyper-reflective myocardium[10] Periarticular calcifications in the wrists, ears, shoulders, ankles and hip[11][12] Heart usually looks structurally normal Cardiomegaly and pulmonary plethora [wikidoc.org]
Respiratoric
- Respiratory Distress
respiratory [ncbi.nlm.nih.gov] Early-onset disease presents variably with fetal distress, heart failure, polyhydramnios, hypertension, respiratory distress, hydrops fetalis, edema, visceral effusions, cyanosis, cardiomegaly, and ascites. [symptoma.com]
Early-onset disease presents variably with fetal distress, heart failure, polyhydramnios, hypertension, respiratory distress, hydrops fetalis, edema, visceral effusions, cyanosis, cardiomegaly, and ascites. [orpha.net]
We report a 4-week-old neonate who initially presented with respiratory distress, heart failure, and Coxsackie B viremia suggestive of viral induced cardiomyopathy. [hindawi.com]
- Tachypnea
[acc.org] Tachypnea [acc.org] Tachypnea [apotechsrl.it] Tachypnea [symptoma.com] Tachypnea [bone-abstracts.org] Tachypnea […] months of life or in utero. [2] Decreased fetal activity Gestation with an antenatal diagnosis of hydrops fetalis [6] [7] Polyhydramnios [symptoma.com]
[…] or in utero.[2] History and Symptoms Decreased fetal activity Gestation with an antenatal diagnosis of hydrops fetalis[3][4] Polyhydramnios Low biophysical profile Marked cyanosis Edema[5] Severe hypertension[6] No or fade pulses Refusal of feeds[7] Tachypnea [wikidoc.org]
She had tachycardia (heart rate 180/min), tachypnea (respiratory rate 80/min) with normal blood pressure and required supplemental oxygen. Peripheral pulses were not palpable. Systemic examination was normal. [pediatriconcall.com]
- Dyspnea
[rareguru.com] Dyspnea [rareguru.com] Dyspnea [orpha.net] Dyspnea [unboundmedicine.com] Dyspnea In GACI probands, initial symptoms included dyspnea (62%) and cyanosis (16%); 73% were ventilated. [symptoma.com]
In GACI probands, initial symptoms included dyspnea (62%) and cyanosis (16%); 73% were ventilated. [bone-abstracts.org]
Initially, she had dyspnea consistent with New York Heart Association (NYHA) Functional Classification class II (light limitation of physical activity with ordinary physical activity resulting in fatigue, palpitation, dyspnea) which progressed to class [cureus.com]
Color compare parasternal short axis view demonstrating origin of the right coronary artery from the left sinus of Valsalva in a 16-year-old female presenting with exertional chest pain and dyspnea. [acc.org]
Gastrointestinal
- Vomiting
[contact.org.uk] Vomiting [contact.org.uk] Vomiting [orpha.net] [orpha.net] Vomiting Of these, 48% of cases presented in utero or at birth with hydrops fetalis, maternal hydramnios, heart failure, or respiratory distress and 52% present later, at a median [symptoma.com]
Presentation of late-onset disease variably includes respiratory distress, cyanosis, feeding difficulties, congestive heart failure, vomiting, irritability, failure to thrive, fever, hypertension, and edema. [orpha.net]
[…] utero.[2] History and Symptoms Decreased fetal activity Gestation with an antenatal diagnosis of hydrops fetalis[3][4] Polyhydramnios Low biophysical profile Marked cyanosis Edema[5] Severe hypertension[6] No or fade pulses Refusal of feeds[7] Tachypnea Vomiting [wikidoc.org]
- Abdominal Distension
Distension Distension Distension [en.wikipedia.org] [en.wikipedia.org] The infant’s subsequent course in NICU was complicated by recurrent abdominal distension, feeding intolerance, irritability, pyrexia and systemic hypertension. [symptoma.com]
distension General arterial rigidity[8] Cardiac failure (most common clinical finding) Strain pattern Dilated and hypertrophied ventricles Extramedullary hematopoiesis of liver [9] Hypertrophy of myocardium Bright and hyper-reflective myocardium[10] [wikidoc.org]
distension General arterial rigidity[15] Cardiac failure (most common clinical finding) Strain pattern on electrocardiogram Enlarged heart (cardiomegaly) [7] Echogenicity of the arteries and/or heart on imaging [7] High Blood Pressure (hypertension) [en.wikipedia.org]
- Failure to Thrive
[…] to Thrive Idiopathic infantile arterial calcification was diagnosed in a 2 week old infant with failure to thrive associated with neurological, renal and cardiac signs. [symptoma.com]
Presentation of late-onset disease variably includes respiratory distress, cyanosis, feeding difficulties, congestive heart failure, vomiting, irritability, failure to thrive, fever, hypertension, and edema. [orpha.net]
They may struggle with heart failure or high blood pressure. Newborns with GACI may also present with feeding difficulties, irritability, or failure to thrive. In nearly 50% of cases, babies are diagnosed soon after birth due to these symptoms. [gaciglobal.org]
In some babies, feeding problems, irritability and failure to thrive are the presenting features. [chop.edu]
Liver, Gall & Pancreas
- Hepatosplenomegaly
[bmcpediatr.biomedcentral.com] Liver, Gall & Pancreas Hepatosplenomegaly […] clinical features including microcephaly, intracranial calcifications, rash, intrauterine growth restriction, jaundice, hepatosplenomegaly [hindawi.com] The absence of jugular [symptoma.com]
[…] calcification involving aorta, carotid, cerebral, renal, mesenteric and cardiac arteries Echo-dense aortic annulus, ascending aorta, transverse arch, descending aorta, main pulmonary artery, and coronary arteries unusually.[13] Abdominal ultrasound can reveal hepatosplenomegaly [wikidoc.org]
Although each of the congenital intrauterine infections has distinct clinical manifestations and sequelae, some of them do share certain clinical features including microcephaly, intracranial calcifications, rash, intrauterine growth restriction, jaundice, hepatosplenomegaly [hindawi.com]
The absence of jugular turgor and hepatosplenomegaly were evaluated and fluids were administered through intraosseous tibial as anti-shock rescue; however, the non-invasive blood pressure remains invaluable. [pediatrics.imedpub.com]
Cardiovascular
- Hypertension
Case presentation The clinical presentation was characterized by a severe early-onset of hypertension refractory to multiple therapy. [go.gale.com]
[en.wikipedia.org] [en.wikipedia.org] [en.wikipedia.org] Anti-hypertensive therapy is warranted for hypertension. [orpha.net] At the age of 2 years the child is doing well but requires medical treatment for arterial hypertension. [symptoma.com]
She had severe hypertension in the second week of life, with mean arterial pressures up to 90 mm Hg. Hypertension was initially managed with oral amlodipine and later on she was switched over to captopril 1.2 mg/kg/day over a period of 7 days. [pediatriconcall.com]
Anti-hypertensive therapy is warranted for hypertension. Treatment of hypophosphatemic rickets involves calcitriol and oral phosphate supplements. It seems prudent to avoid the use of warfarin if possible. [orpha.net]
- Heart Failure
[pediatriconcall.com] Heart Failure [pediatriconcall.com] Heart Failure [moh-it.pure.elsevier.com] Heart Failure [doi.org] Heart Failure We report the case of a 32-week-old infant with hydrops fetalis and heart failure who died at 4 days of age. [symptoma.com]
We report the case of a 4-year-old Italian child submitted to heart transplant, at 18 months old, for end-stage heart failure due to extensive myocardial infarction of the left ventricle and diffuse coronary calcifications. [moh-it.pure.elsevier.com]
After birth, affected babies may show signs of heart failure, high blood pressure, respiratory distress, edema or fluid collections, or an enlarged heart. [chop.edu]
Presentation of late-onset disease variably includes respiratory distress, cyanosis, feeding difficulties, congestive heart failure, vomiting, irritability, failure to thrive, fever, hypertension, and edema. [orpha.net]
- Cyanosis
Reviewed by: Jack Wolfsdorf, MD, FAAP This page was last updated on: December 18, 2020 05:03 PM Learn more about Cyanosis A bluish tinge of the lips, tongue, nail beds or skin is called cyanosis. There are 2 types: Central cyanosis and Acrocyanosis. [nicklauschildrens.org]
[contact.org.uk] Cyanosis [contact.org.uk] Cyanosis [chop.edu] Cyanosis There are 2 types: Central cyanosis and Acrocyanosis. [nicklauschildrens.org] There are 2 types: Central cyanosis and Acrocyanosis. [symptoma.com]
Early-onset disease presents variably with fetal distress, heart failure, polyhydramnios, hypertension, respiratory distress, hydrops fetalis, edema, visceral effusions, cyanosis, cardiomegaly, and ascites. [orpha.net]
In other babies, GACI is recognized later, within the first three to six months of life, with symptoms ranging from respiratory distress and cyanosis to heart failure and hypertension. [chop.edu]
- Cardiomegaly
A chest X-ray showed massive cardiomegaly and pulmonary oedema. [symptoma.com]
Case Presentation A multigravida with previous two normal issues was referred at 36 weeks of gestation, as the screening ultrasound revealed cardiomegaly. [austinpublishinggroup.com]
[…] in affected individuals, with signs and symptoms including difficulty breathing, accumulation of fluid (edema) in the extremities, a bluish appearance of the skin or lips (cyanosis), severe high blood pressure (hypertension), and an enlarged heart (cardiomegaly [rarediseases.oscar.ncsu.edu]
Early-onset disease presents variably with fetal distress, heart failure, polyhydramnios, hypertension, respiratory distress, hydrops fetalis, edema, visceral effusions, cyanosis, cardiomegaly, and ascites. [orpha.net]
- Weak Pulse
[bmcpediatr.biomedcentral.com] Weak Pulse [bmcpediatr.biomedcentral.com] Weak Pulse At one hour of age, he was noted to be pale, hypoperfused, with weak pulses, a hyperdynamic precordium and a grade IV/VI pansystolic murmur. [symptoma.com]
Ears
- Hearing Impairment
[ojhas.org] Ears Hearing Impairment [doi.org] Ears Hearing Impairment Fishman G, Miller-Hansen D, Jacobsen C, Singhal V, Alon U: Hearing impairment in familial X-linked hypophosphatemic rickets. Eur J Pediatr 2004;163:622-623. [symptoma.com]
Eyes
- Angioid Streaks of the Retina
Also, many PXE characteristics, including angioid streaks of the retina and peau d’orange skin lesions might frequently be overlooked in the clinical examinations of GACI patients. [frontiersin.org]
Some case reports described association with clinical features of PXE such as angioid streaks of the retina and papular skin lesions [2]; PXE is characterized by dystrophic calcification of soft tissues. [bmcpediatr.biomedcentral.com]
Skin
- Ulcer
[symptoma.com] Skin Ulcer [symptoma.com] Skin Ulcer Infants with GACI may suffer from gastrointestinal complications such as ulcerating inflammation of the wall of the small intestine or obstruction due to stenosis. [symptoma.com]
Infants with GACI may suffer from gastrointestinal complications such as ulcerating inflammation of the wall of the small intestine or obstruction due to stenosis. [gaciglobal.org]
Dystrophic calcification is also frequently noted in diseased tissue, such as chronic ulcers and granulomas as well as in benign and malignant neoplasms. [oncotarget.com]
Surgery is indicated when lesions are painful, recurrently infected, ulcerated or when functional impairment occurs[149]. [wjgnet.com]
Fetus
- Hydrops Fetalis
[doi.org] Fetus Hydrops Fetalis We report the case of a 32-week-old infant with hydrops fetalis and heart failure who died at 4 days of age. [ncbi.nlm.nih.gov] Antenatal detection of idiopathic arterial calcification with hydrops fetalis. [symptoma.com]
Conclusion: GACI might be one of the possible etiologies of hydrops fetalis. [thieme-connect.com]
Conclusions Three points of interest: the first one is to remind clinicians of this rare and atypical etiology in neonates with severe hypertension and in fetuses with cardiomyopathy and non-immune hydrops fetalis. [go.gale.com]
Nagar AM, Hanchate V, Tandon A, Thakkar H, Chaubal NG: Antenatal detection of idiopathic arterial calcification with hydrops fetalis. J Ultrasound Med 2003;22:653–659. [karger.com]
Musculoskeletal
- Bone Pain
Rickets leads to severe skeletal deformities, short stature, severe bone pain, and an increased risk of bone fractures. [inozyme.com]
bone pain, bowed femora, and short stature. [symptoma.com]
ARHR2 manifests in the post-infancy stage and causes rickets, weakened bones, repeated bone fractures, skeletal deformities, short stature, muscle weakness, fatigue, and bone pain. [business.itbusinessnet.com]
Urogenital
- Kidney Failure
The initial indication of GACI is high blood pressure or kidney failure. Physicians may order X-rays for newborns with these conditions to look for calcification in arteries. [chop.edu]
[…] abdomen and and kidney failure. [nicklauschildrens.org]
[karger.com] Urogenital Kidney Failure The initial indication of GACI is high blood pressure or kidney failure. Physicians may order X-rays for newborns with these conditions to look for calcification in arteries. [symptoma.com]
It is typically used by patients who have excess calcium in their arteries due to kidney disease. [en.wikipedia.org]
Neurologic
- Stroke
The cause of death is frequently myocardial infarction or stroke, and hypertension and congestive heart failure are common in fetuses and infants with GACI. [clinicaltrials.gov]
Eventually, you might develop symptoms of peripheral artery disease (PAD) or stroke. The most common PAD symptom is pain or cramping in your leg muscles when walking or climbing stairs. If plaque is dislodged, it can cause a stroke. [share.upmc.com]
The cause of death is frequently myocardial infarction or stroke. GACI is strongly associated with inactivating mutations in ectonucleotide pyrophosphate/ phosphodiesterase 1 (ENPP1). [patientwing.com]
The cause of death is frequently myocardial infarction or stroke. [ichgcp.net]
As a result of the cardiovascular problems associated with GACI, individuals with this condition often do not survive past infancy, with death typically caused by a heart attack or stroke. [rarediseases.oscar.ncsu.edu]
- Irritability
vomiting, irritability, or respiratory [ncbi.nlm.nih.gov] Presentation of late-onset disease variably includes respiratory distress, cyanosis, feeding difficulties, congestive heart failure, vomiting, irritability, failure to thrive, fever, hypertension [symptoma.com]
Presentation of late-onset disease variably includes respiratory distress, cyanosis, feeding difficulties, congestive heart failure, vomiting, irritability, failure to thrive, fever, hypertension, and edema. [orpha.net]
Newborns with GACI may also present with feeding difficulties, irritability, or failure to thrive. In nearly 50% of cases, babies are diagnosed soon after birth due to these symptoms. [gaciglobal.org]
In some babies, feeding problems, irritability and failure to thrive are the presenting features. [chop.edu]
Workup
[orpha.net] Workup [doi.org] Workup The infant died at the age of 7 weeks of cardiac failure and the parents were referred to Molecular Biology and Cytogenetic lab for further workup. [symptoma.com]
Initial working diagnosis included congenital infection; however, patients remained without a definitive diagnosis despite extensive workup. Consequently, we investigated a potential genetic etiology. [meta.org]
Laboratory workup was significant for a low serum phosphorus; elevated parathyroid hormone (PTH); elevated 1,25(OH)2D; and reduced renal tubular reabsorption of phosphorus, or TRP. [mayoclinic.org]
Our workup revealed normal CBC, electrolyte, metabolic screening, lipid profile and negative blood culture growth. [avensonline.org]
X-Ray
- Pericardial Effusion
The sonographic examination performed at 28 weeks' gestation revealed scalp edema, severe skin edema, bilateral hydrocele, ascites, and pleural and pericardial effusion. [avesis.istanbul.edu.tr]
[symptoma.com] X-Ray Pericardial Effusion The fetal and postnatal echocardiographic features were a large pericardial effusion, thickened pulmonary and aortic valves, poor pulsation of the descending aorta, and calcification of the great vessels. [symptoma.com]
Targeted ultrasonography revealed moderate cardiomegaly and pericardial effusion in the fetus (Figure 1). There were no structural abnormality of the heart on fetal ECHO. [austinpublishinggroup.com]
Antenatally there was presence of pericardial effusion leading to hydrops and polyhydramnios. [pediatriconcall.com]
Table 1: Reported cases of IIAC with pericardial effusion. [avensonline.org]
Hypertrophy
- Ventricular Hypertrophy
[avesis.istanbul.edu.tr] Hypertrophy Ventricular Hypertrophy Electrocardiography showed left ventricular hypertrophy and strain pattern. [symptoma.com]
[…] function, however mild concentric ventricular hypertrophy and multiple intracardiac as well as vascular calcifications[3] Idiopathic arterial calcification of infancy should be suspected when there is hyperechogenicity of vessel walls, evidence ofpolyhydramnios [wikidoc.org]
hypertrophy, and VSD [10]. [cureus.com]
Treatment
Treatment with bisphosphonates is ongoing, but is planned to be discontinued at 3 years of age. The child has remained healthy and developmentally normal. [go.gale.com]
Both the GACI and ARHR2 phenotypes are potentially fatal or associated with severe morbidity, with no FDA-approved drugs or proven treatments. [clinicaltrials.gov]
"Generalized arterial calcification of infancy: Treatment with bisphosphonates". [wikidoc.org]
[edit] Currently, there is no curative treatment for GACI. [en.wikipedia.org]
Prognosis
Prognosis Prognosis is poor; most infants die from myocardial infarction within the first year of life, with the greatest number of deaths occurring within the first six months. [orpha.net]
[austinpublishinggroup.com] [austinpublishinggroup.com] [orpha.net] Prognosis Prognosis Prognosis is poor; most infants die from myocardial infarction within the first year of life, with the greatest number of deaths occurring within the first six months [symptoma.com]
It has a poor prognosis, with mortality been reported by the age of 4-6 months. [avensonline.org]
Due to the unfavourable prognosis of GACI, a prenatal diagnosis by molecular genetic testing was performed during the following pregnancy with negative result. [thieme-connect.com]
Etiology
[orpha.net] Etiology [orpha.net] Etiology […] cardiomyopathy as the etiology [hindawi.com] Inherited arterial calcifications syndromes: etiologies and treatment concepts. [symptoma.com]
Although Coxsackie B viremia was confirmed by PCR and presumed to be the etiology of the cardiomyopathy, microscopic sections on autopsy failed to demonstrate any evidence of inflammation and thus not supporting viral induced cardiomyopathy as the etiology [hindawi.com]
Inherited arterial calcifications syndromes: etiologies and treatment concepts. Curr Osteoporos Rep. 2017;15:255–70. CrossRefPubMed Nitschke Y, Rutsch F. Inherited arterial calcifications syndromes: etiologies and treatment concepts. [springermedizin.de]
[…] the combination of polyhydramniosis and intrauterine growth restriction may necessitate examination of the major vessels for presumptive a diagnosis of IIAC. (20420290) Idiopathic infantile arterial calcification (IIAC) is a rare disease of unknown etiology [humpath.com]
Conclusions Three points of interest: the first one is to remind clinicians of this rare and atypical etiology in neonates with severe hypertension and in fetuses with cardiomyopathy and non-immune hydrops fetalis. [go.gale.com]
Epidemiology
[medun.acad.bg] [doi.org] Epidemiology Summary Epidemiology Approximately 300 cases have been reported worldwide in the medical literature. [symptoma.com]
Summary Epidemiology Approximately 300 cases have been reported worldwide in the medical literature. The prevalence is unknown; however, based on carrier frequency of the recognized pathogenic variants, the frequency of 1/566,000 has been suggested. [orpha.net]
Epidemiology Approximately 300 cases have been reported worldwide in the medical literature. The prevalence is unknown; however, based on carrier frequency of the recognized pathogenic variants, the frequency of 1/566,000 has been suggested. [rareguru.com]
Idiopathic infantile arterial calcification Microchapters Home Patient Information Overview Historical Perspective Classification Pathophysiology Causes Differentiating Idiopathic infantile arterial calcification from other Diseases Epidemiology and Demographics [wikidoc.org]
Pathophysiology
[symptoma.com] It can therefore be hypothesized that the pathophysiology of ENPP1 and ABCC6 related disorders is based on common downstream mechanisms. [symptoma.com]
Unusual features in this disease include ultrasonographic prenatal diagnosis in the second two siblings and ultrastructural studies of the third patient that might shed light on the pathophysiologic characteristics of this disease. [jamanetwork.com]
It can therefore be hypothesized that the pathophysiology of ENPP1 and ABCC6 related disorders is based on common downstream mechanisms. [frontiersin.org]
Pseudoxanthoma Elasticum: a clinical pathophysiological and genetic update including 11 novel ABCC6 mutations. J Med Genet 2005; 42:881-892 [PubMed] 12. OMIM: An online catalog of human genes and genetic disorders [Electronic resource]. [journal.nephrolog.ru]
Prevention
ENPP1-Fc prevents mortality and vascular calcifications in rodent model of generalized arterial calcification of infancy. Nature Communications, 6. https://doi.org/10.1038/ncomms10006 [mendeley.com]
ABCC6 prevents ectopic mineralization seen in pseudoxanthoma elasticum by inducing cellular nucleotide release. Proc Natl Acad Sci U S A. 2013;110(50):20206–11. [springermedizin.de]
[ncbi.nlm.nih.gov] Prevention - Generalized arterial calcification of infancy-1 (GACI1) Not supplied. [symptoma.com]
Figure 2: Magnesium treatment prevents ectopic soft tissue mineralization in asj mice as revealed by histopathology. [oncotarget.com]