Peri and intraglomerular haematoxylinophilic deposits in a newborn: answer

Sonia Nemolato, Alice Sanna, Clara Gerosa, Daniela Fanni, Giuliana Palmas, Melania Puddu, Cristina Loddo, Claudia Fanni, Peter Van Eyken, Gavino Faa

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.


Keywords


newborn; kidney; calcium deposits; idiopatic infantile arterial calcification

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