ABCD syndrome, an uncommon cause of hypercalcemia in pediatrics.

Autor:	Feller A; Department of Endocrinology; Hospital de Pediatría S.A.M.I.C. Prof. Dr. Juan P. Garrahan, City of Buenos Aires, Argentina., Aziz M; Department of Endocrinology; Hospital de Pediatría S.A.M.I.C. Prof. Dr. Juan P. Garrahan, City of Buenos Aires, Argentina., Gil S; Department of Endocrinology; Hospital de Pediatría S.A.M.I.C. Prof. Dr. Juan P. Garrahan, City of Buenos Aires, Argentina., Blanco A; Department of Pediatrics; Hospital de Pediatría S.A.M.I.C. Prof. Dr. Juan P. Garrahan, City of Buenos Aires, Argentina., Garavaglia M; Department of Pediatrics; Hospital de Pediatría S.A.M.I.C. Prof. Dr. Juan P. Garrahan, City of Buenos Aires, Argentina., Paz M; Department of Nephrology; Hospital de Pediatría S.A.M.I.C. Prof. Dr. Juan P. Garrahan, City of Buenos Aires, Argentina., Steinbrun S; Department of Nephrology; Hospital de Pediatría S.A.M.I.C. Prof. Dr. Juan P. Garrahan, City of Buenos Aires, Argentina., Grignoli M; Department of Food Services; Hospital de Pediatría S.A.M.I.C. Prof. Dr. Juan P. Garrahan, City of Buenos Aires, Argentina., Vezzani C; Department of Food Services; Hospital de Pediatría S.A.M.I.C. Prof. Dr. Juan P. Garrahan, City of Buenos Aires, Argentina., Barcala C; Department of Nutrition; Hospital de Pediatría S.A.M.I.C. Prof. Dr. Juan P. Garrahan, City of Buenos Aires, Argentina., Ciaccio M; Department of Endocrinology; Hospital de Pediatría S.A.M.I.C. Prof. Dr. Juan P. Garrahan, City of Buenos Aires, Argentina., Viterbo G; Department of Endocrinology; Hospital de Pediatría S.A.M.I.C. Prof. Dr. Juan P. Garrahan, City of Buenos Aires, Argentina.
Jazyk:	English; Spanish; Castilian
Zdroj:	Archivos argentinos de pediatria [Arch Argent Pediatr] 2024 Dec 01; Vol. 122 (6), pp. e202310306. Date of Electronic Publication: 2024 Jul 04.
DOI:	10.5546/aap.2023-10306.eng
Abstrakt:	ABCD syndrome (ABnormal Calcium, Calcinosis, and Creatinine in Down syndrome) is characterized by an association of hypercalcemia, hypercalciuria, nephrocalcinosis, and impaired kidney function in patients with Down syndrome. Only 7 cases have been published worldwide, although it is believed to be underdiagnosed. This report describes 2 new patients with ABCD syndrome and compares them with the cases reported to date. Although it is a rare cause of pediatric hypercalcemia, it should be considered in children with Down syndrome once other more common etiologies have been ruled out. Once this diagnosis is confirmed, the recommended treatment is to reduce dietary calcium intake and work with an interdisciplinary team to maintain an adequate calorie and protein intake. (Sociedad Argentina de Pediatría.)
Databáze:	MEDLINE
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