Allogenic hematopoietic stem cell transplantation in an Iranian patient with osteopetrosis caused by carbonic anhydrase II deficiency: A case report

Author:

Shamsian Bibi Shahin1,Momtazmanesh Nader1,Saneifard Hedyeh2,Tabatabaei Seyed Mohammad Taghi Hosseini3,Jafari Mohammadreza4,pour Zahra Khafaf1,Al‐Hussieni Kawthar Jasim Mohammad Rida3,Jamee Mahnaz3,Kamfar Sharareh1

Affiliation:

1. Pediatric Congenital Hematologic Disorders Research Center, Research Institute for Children's Health Shahid Beheshti University of Medical Sciences Tehran Iran

2. Pediatric Endocrinology and Metabolism Department, Faculty of Medicine, Mofid Children's Hospital Shahid Beheshti University of Medical Sciences Tehran Iran

3. Pediatric Nephrology Research Center, Research Institute for Children's Health Shahid Beheshti University of Medical Sciences Tehran Iran

4. Student Research Committee Alborz University of Medical Sciences Karaj Iran

Abstract

AbstractBackgroundOsteopetrosis is a group of geneticall heterogeneous disorders resulting from impaired osteoclast function and bone resorption. The identification of specific genetic mutations can yield important prognostic and therapeutic implications. Herein, we present the diagnosis and successful application of hematopoietic stem cell transplantation (HSCT) in a patient with osteopetrosis caused by carbonic anhydrase II deficiency (Intermediate osteopetrosis).Case PresentationHerein, we describe a 2.5‐year‐old male patient born to consanguineous parents who presented at 8‐month‐old with hydrocephaly, brain shunt, and developmental delay. Later at 9 months old, he was found to have eye disorder such as nystagmus, fracture of the elbow, abnormal skeletal survey, normal cell blood count (CBC), and severe hypocellularity in the bone marrow. Further evaluation showed renal tubular acidosis type 2. Whole‐exome sequencing revealed a pathogenic homozygous variant in intron 2 of the carbonic anhydrase 2 gene (CA2) gene (c.232 + 1 G>T). The diagnosis of intermediate autosomal recessive osteopetrosis was established, and allogenic HSCT from his mother, a full‐matched related donor (MRD), was planned. The conditioning regimen included Busulfan, Fludarabine, and Rabbit anti‐thymocyte globulin. Cyclosporine and Mycophenolate Mofetil were used for graft‐versus‐host‐disease prophylaxis. He Engrafted on day +13, and 95% chimerism was achieved. He is currently doing well without immunosuppressive therapy, now 12 months post HSCT, with normal calcium level and improving visual quality and FISH analysis revealed complete donor chimerism.DiscussionHSCT could be a promising curative treatment for intermediate osteopetrosis and can provide long‐term survival. Ongoing challenges in various aspects of HSCT remain to be addressed.

Publisher

Wiley

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