Schimke immuno-osseous dysplasia in a boy with generalized edema; a case report

Autor:	Paniz Pourpashang, Nasrin Esfandiar, Samaneh Panjeshahi, Samin Sharafian, Seyed Hamidreza Mirbehbahani
Jazyk:	angličtina
Rok vydání:	2024
Předmět:	schimke immuno-osseous dysplasia nephrotic syndrome immunodeficiency Pathology RB1-214 Internal medicine RC31-1245 Other systems of medicine RZ201-999
Zdroj:	Journal of Nephropathology, Vol 13, Iss 4, Pp e21481-e21481 (2024)
Druh dokumentu:	article
ISSN:	2251-8363 2251-8819
DOI:	10.34172/jnp.2023.21481
Popis:	Schimke immuno-osseous dysplasia (SIOD) is a rare disease diagnosed by skeletal malformations, steroid-resistant nephrotic syndrome (SRNs), and T-cell immunodeficiency. Proteinuria with focal segmental glomerulosclerosis (FSGS) is the most common renal pathologic finding in SIOD. In this case report, we present an 8-year-old boy with generalized edema, kyphosis, and nephrotic syndrome who was eventually diagnosed with SIOD.
Databáze:	Directory of Open Access Journals
Externí odkaz:	https://doaj.org/article/9062ae88e89f462fa81cc12651dacf9a Zobrazit plný text záznamu View record in DOAJ Plný text ve formátu PDF