Keywords
kidney
calcium deposits
idiopatic infantile arterial calcification
How to Cite
Abstract
Idiopathic infantile arterial calcification (IIAC) is a rare disease characterized by abnormal calcification of the arterial vessels, resulting in calcium deposits in the wall of medium-sized and large arteries. IIAC is caused by mutations in the ENPP1 gene, localized on chromosome 6q22, resulting in deficiency of the enzyme PC-1 nucleoside triphosphate pyrophosphohydrolase (NPP). Clinical presentation may occur during the intrauterine life, with fetal hydrop, aorto-pulmonary calcification, or as fatal hypertensive cardiomyopathy. In other patients, the clinical presentation is in the postnatal period with hypertrophic cardiomyopathy, with a fatal outcome within 6 months due to intractable heart failure.
Here we report the clinico-pathological findings of a preterm affected with IIAC, with particular emphasis on renal glomerular pathological lesion not previously described in this disease.
Most read articles by the same author(s)
- Giorgia Locci, Vassilios Fanos, Clara Gerosa, Gavino Faa, Hyaline membrane disease (HMD): the role of the perinatal pathologist , Journal of Pediatric and Neonatal Individualized Medicine (JPNIM): Vol. 3 No. 2 (2014): October 2014
- Gavino Faa, Clara Gerosa, Massimo Castagnola, MEDNIK syndrome: a new entry in the spectrum of inborn errors of copper metabolism , Journal of Pediatric and Neonatal Individualized Medicine (JPNIM): Vol. 9 No. 2 (2020): October 2020
- Flaviana Cau, Daniela Fanni, Clara Gerosa, Maria Carolina Botta, Flaminia Bardanzellu, Sara Aversa, Ester Sorrentino, Francesco Ronchi, Cristiana Bellan, Gavino Faa, Massimo Castagnola, Oct-4 is highly expressed in stem/progenitor cells and in primordial follicles of the fetal human ovary , Journal of Pediatric and Neonatal Individualized Medicine (JPNIM): Vol. 10 No. 1 (2021): April 2021 • Advance publication
- Cristiana Rossi, Clara Gerosa, Pietro Pampaloni, Melania Puddu, Alberto Ravarino, Stefano Angioni, Daniela Fanni, Gavino Faa, Placental Calcification Score: a new semiquantitative method to assess pattern and grading of placental calcifications , Journal of Pediatric and Neonatal Individualized Medicine (JPNIM): Vol. 8 No. 2 (2019): October 2019
- Alessandra Reali, Melania Puddu, Maria Cristina Pintus, Maria Antonietta Marcialis, Giuseppina Pichiri, Pierpaolo Coni, Danila Manus, Angelica Dessì, Gavino Faa, Vassilios Fanos, Multipotent stem cells of mother's milk , Journal of Pediatric and Neonatal Individualized Medicine (JPNIM): Vol. 5 No. 1 (2016): April 2016
- Gavino Faa, Vassilios Fanos, Melania Puddu, Alessandra Reali, Angelica Dessì, Giuseppina Pichiri, Clara Gerosa, Daniela Fanni, Breast milk stem cells: four questions looking for an answer , Journal of Pediatric and Neonatal Individualized Medicine (JPNIM): Vol. 5 No. 2 (2016): October 2016
- Clara Gerosa, Vassilios Fanos, Daniela Fanni, Peter Van Eyken, Rossano Ambu, Sonia Nemolato, Giuseppe Floris, Nicoletta Iacovidou, Yukio Gibo, Anna Maria Nurchi, Gavino Faa, Liver biopsy interpretation in the differential diagnosis of autoimmune liver disease in children , Journal of Pediatric and Neonatal Individualized Medicine (JPNIM): Vol. 2 No. 2 (2013): October 2013
- Monica Piras, Vassilios Fanos, Alberto Ravarino, Maria Antonietta Marcialis, Laura Vinci, Maria Cristina Pintus, Gavino Faa, Fetal programming of Parkinson’s and Alzheimer’s diseases: the role of epigenetic factors , Journal of Pediatric and Neonatal Individualized Medicine (JPNIM): Vol. 3 No. 2 (2014): October 2014
- Giorgia Locci, Anna Paola Pinna, Angelica Dessì, Eleonora Obinu, Clara Gerosa, Maria Antonietta Marcialis, Maria Cristina Pintus, Marco Angiolucci, Vassilios Fanos, Rossano Ambu, Gavino Faa, Stem progenitor cells in the human pancreas , Journal of Pediatric and Neonatal Individualized Medicine (JPNIM): Vol. 5 No. 2 (2016): October 2016
- Daniela Fanni, Francesco Angotzi, Clara Gerosa, Doris Barcellona, Giancarlo Senes, Federica Lai, Giovanni Martino, Stefano Ascani, Vassilios Fanos, Gavino Faa, Multiple specialized stem cell niches characterize hematopoiesis in the human fetal liver , Journal of Pediatric and Neonatal Individualized Medicine (JPNIM): Vol. 9 No. 1 (2020): April 2020
Similar Articles
- Darinka Šumanović-Glamuzina, Breastfeeding practice in Bosnia and Herzegovina , Journal of Pediatric and Neonatal Individualized Medicine (JPNIM): Vol. 2 No. 1 (2013): April 2013
You may also start an advanced similarity search for this article.