Case report: We report on a female infant presented with hydrops fetalis. The parents are non-consanguineous of caucasian origin. The pregnancy was uneventful except for unexplainable polyhydramnios. [thieme-connect.com]

[en.wikipedia.org] [symptoma.com] Case presentation The clinical presentation was characterized by a severe early-onset of hypertension refractory to multiple therapy. [symptoma.com]

GACI should be considered in the differential diagnosis in infants presenting with arterial calcifications and congenital anomalies of the gastrointestinal tract. [humpath.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]

• 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]

  At first, she began having pain in her hands and was initially diagnosed with arthritis. However, test results were negative. She was sent home with no answers. Over the years, the pain intensified and traveled to her lower extremities. [medicalbag.com]

  Rickets leads to severe skeletal deformities, short stature, severe bone pain, and an increased risk of bone fractures. [inozyme.com]

• Congestive Heart Failure

  [webmd.com] Congestive Heart Failure [symptoma.com] Entire Body System Congestive Heart Failure [orpha.net] Entire Body System Congestive Heart Failure Affected infants are usually diagnosed before birth or in the neonatal period with symptoms of congestive [symptoma.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]

  More on Hypophosphatemic rickets » Congestive heart failure : Congestive Heart Failure occurs when the heart cannot pump adequately to send the blood around the body. [familydiagnosis.com]

• 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]

• Ascites

  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]

  [ncbi.nlm.nih.gov] The sonographic examination performed at 28 weeks' gestation revealed scalp edema, severe skin edema, bilateral hydrocele, ascites, and pleural and pericardial effusion. [symptoma.com]

  The sonographic findings were fetal hydrops (hydrothorax, skin edema, ascites, pericardial effusion and polyhydramnion), echogenic great arteries and pathological Doppler findings. [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. [orpha.net]

• Inflammation

  [symptoma.com] Entire Body System Inflammation 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. [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]

  Adenosine signaling suppresses TNAP expression and inhibits vascular inflammation and neointima formation. ABCC6 has been hypothesized, though not yet proven, to modulate adenosine transport. [circresearch.com]

• Respiratory Distress

  Distress Distress 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 age of 3 months, with sudden onset of fever, vomiting, irritability [symptoma.com]

  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 age of 3 months, with sudden onset of fever, vomiting, irritability, or 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. [orpha.net]

• 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 Low biophysical [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 [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]

• Vomiting

  [gaciglobal.org] 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 age of 3 months, with [symptoma.com]

  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 age of 3 months, with sudden onset of fever, 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, and edema. [orpha.net]

• Failure to Thrive

  […] to Thrive [orpha.net] In some babies, feeding problems, irritability and failure to thrive are the presenting features. [symptoma.com]

  Idiopathic infantile arterial calcification was diagnosed in a 2 week old infant with failure to thrive associated with neurological, renal and cardiac signs. Therapy with diphosphonate resulted in a complete resolution of vascular calcifications. [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, and edema. [orpha.net]

  Abstract Idiopathic infantile arterial calcification was diagnosed in a 2 week old infant with failure to thrive associated with neurological, renal and cardiac signs. [doi.org]

• Abdominal 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]

  The infant’s subsequent course in NICU was complicated by recurrent abdominal distension, feeding intolerance, irritability, pyrexia and systemic hypertension. Oral Editronate Sodium (10 mg/kg/day, twice a day) was started on day 40. [bmcpediatr.biomedcentral.com]

• Hepatosplenomegaly

  [en.wikipedia.org] Liver, Gall & Pancreas Hepatosplenomegaly [bmcpediatr.biomedcentral.com] Liver, Gall & Pancreas Hepatosplenomegaly […] clinical features including microcephaly, intracranial calcifications, rash, intrauterine growth restriction, jaundice [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]

• Hypertension

  Standard anti-hypertensive therapy is warranted for hypertension. Aspirin therapy is warranted in those with severe coronary stenosis who are at increased risk for coronary thrombosis. Anti-hypertensive therapy is warranted for hypertension. [orpha.net]

  [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]

  Case presentation The clinical presentation was characterized by a severe early-onset of hypertension refractory to multiple therapy. [go.gale.com]

  The clinical presentation was characterized by a severe early-onset of hypertension refractory to multiple therapy. [ncbi.nlm.nih.gov]

  Prostaglandin E 1 (PGE 1 ) infusion (dosage range 0.017–0.068 μg/kg/min) promptly controlled hypertension on two occasions. [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. [ncbi.nlm.nih.gov]

  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]

• 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]

  Striking cardiomegaly with calcifications of the great vessels were noted. Radiological examination showed global and bilateral calcifications of the brachial and femoral arterial network. [ashg.org]

  At autopsy the infant was found to have cardiomegaly, myocardial infarctions and multifocal calcifications of the aorta and arteries in the lungs, heart, thyroid, spleen, and testis. [ncbi.nlm.nih.gov]

• 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]

  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]

  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 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. The rest of his examination was normal. [symptoma.com]

  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. The rest of his examination was normal. A chest X-ray showed massive cardiomegaly and pulmonary oedema. [bmcpediatr.biomedcentral.com]

• Hearing Impairment

  [en.wikipedia.org] 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. [symptoma.com]

  Characterization of hearing-impairment in Generalized Arterial Calcification of Infancy (GACI). Theng EH, Brewer CC, Oheim R, Zalewski CK, King KA, Delsmann MM, Rolvien T, Gafni RI, Braddock DT, Jeffrey Kim H, Ferreira CR. Theng EH, et al. [pubmed.ncbi.nlm.nih.gov]

  Davies M, Kane R, Valentine J: Impaired hearing in X-linked hypophosphataemic (vitamin-D-resistant) osteomalacia. Ann Intern Med 1984;100:230-232. [karger.com]

• 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]

• 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]

• Hydrops Fetalis

  Conclusion: GACI might be one of the possible etiologies of hydrops fetalis. [thieme-connect.com]

  [oncotarget.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. [symptoma.com]

  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]

• 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. [globenewswire.com]

• 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]

  [symptoma.com] Urogenital Kidney Failure [karger.com] Urogenital Kidney Failure The initial indication of GACI is high blood pressure or kidney failure. [symptoma.com]

  […] abdomen and and kidney failure. [nicklauschildrens.org]

• 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]

  Generalized arterial calcification of infancy (GACI) is an autosomal recessive disorder characterized by congenital calcification of large- and medium-sized arteries, associated with early myocardial infarction, heart failure, and stroke, and premature [ncbi.nlm.nih.gov]

  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]

  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]

• Irritability

  [chop.edu] Neurologic Irritability [chop.edu] Neurologic Irritability vomiting, irritability, or respiratory [ncbi.nlm.nih.gov] Presentation of late-onset disease variably includes respiratory distress, cyanosis, feeding difficulties, congestive heart [symptoma.com]

  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 age of 3 months, with sudden onset of fever, vomiting, irritability, or respiratory [ncbi.nlm.nih.gov]

  The drug was given for a total of 65 days and then stopped after the appearance of severe thrombocytopenia; other side effects included sporadic hyperthermia and irritability. [doi.org]

  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]

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. [jcdronline.org]

[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]

• Pericardial Effusion

  A hydropic baby with large pericardial effusion was delivered and resuscitation with pericardiocentesis was necessary. No classical causes for generalized hydrops were found. [thieme-connect.com]

  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]

  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]

  [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]

  Antenatally there was presence of pericardial effusion leading to hydrops and polyhydramnios. [pediatriconcall.com]

• Ventricular Hypertrophy

  [austinpublishinggroup.com] Hypertrophy Ventricular Hypertrophy Electrocardiography showed left ventricular hypertrophy and strain pattern. [symptoma.com]

  Electrocardiography showed left ventricular hypertrophy and strain pattern. Echocardiography showed a dilated and hypertrophied left ventricle, with bright and hyper-reflective myocardium (fig 1). Fractional shortening was 12.5%. [doi.org]

  […] 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]

  Echocardiography demonstrated left ventricular hypertrophy with good function (fractional shortening 40%). He was normotensive. X-radiographs of chest and abdomen were normal. [documents.tips]

  hypertrophy, and VSD [10]. [cureus.com]

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]

However, survival seems to be associated with hypophosphatemia linked with hyperphosphaturia and also with bisphosphonate treatment Full text not available from this repository. [eprints.soton.ac.uk]

Treatment of hypophosphatemic rickets involves calcitriol and oral phosphate supplements. It seems prudent to avoid the use of warfarin if possible. [orpha.net]

His hypertension improved following bilateral renal angioplasty and treatment with atenolol and nifedipine. [documents.tips]

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]

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]

The prognosis is extremely poor, with 85% of affected infants dying within the first 6 months of life. [ncbi.nlm.nih.gov]

Conclusion: GACI might be one of the possible etiologies of hydrops fetalis. [thieme-connect.com]

[…] 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]

Abstract Idiopathic infantile arterial calcification (IIAC) is a rare disease of unknown etiology, which causes wide-spread arterial calcification and usually leads to early death from coronary arterial occlusion. [doi.org]

Idiopathic infantile arterial calcification is a disorder of unknown etiology manifested by widespread arterial calcification. This usually leads to early death from coronary artery occlusion. [ncbi.nlm.nih.gov]

[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]

It can therefore be hypothesized that the pathophysiology of ENPP1 and ABCC6 related disorders is based on common downstream mechanisms. [frontiersin.org]

[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]

[…] biochemistry of nutrition 180 Nutritional disorders and their management 200 Clinical biochemistry of the gastrointestinal tract 214 Assessment of hepatic function and investigation of jaundice 231 Acute and chronic liver disease 250 Glucose metabolism and the pathophysiology [books.google.com]

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]

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]

Here we demonstrate that subcutaneous administration of an ENPP1-Fc fusion protein prevents the mortality, vascular calcifications and sequela of disease in animal models of GACI, and is accompanied by a complete clinical and biomarker response. [ncbi.nlm.nih.gov]

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]