Results 31 to 40 of about 29,515 (111)

Telomere length in inherited bone marrow failure syndromes

Haematologica, 2015
Telomeres are long DNA repeats and a protein complex at chromosome ends that are essential for genome integrity. Telomeres are very short in patients with dyskeratosis congenita due to germline mutations in telomere biology genes.
Blanche P. Alter, Neelam Giri, Sharon A. Savage, Philip S. Rosenberg   +3 more
doaj   +1 more source

Wissler-Fanconi syndrome and related diagnoses: a case report

Open Access Rheumatology: Research and Reviews, 2016
Mustafa Q Albustani,1 Robert F Howard2 1Section of Medicine/Pediatrics, The University of Oklahoma College of Medicine, Tulsa, OK, USA; 2Division of Rheumatology, Utica Park Clinic, Tulsa, OK, USA Introduction: Wissler–Fanconi syndrome is a rare ...
Albustani MQ, Howard RF
doaj  

Adefovir dipivoxil-induced development of osteomalacia and Fanconi syndrome during the treatment of hepatitis B virus (HBV)-related cirrhosis

Clinical Management Issues, 2014
Adefovir dipivoxil is a nucleotide analog reverse transcriptase inhibitor used to treat adult patients affected by HBeAg-positive and HBeAg-negative chronic hepatitis B and with clinical evidence of lamivudine-resistant hepatitis B virus (HBV).
Orietta Staltari, Benedetto Caroleo, Andzelika Michniewicz, Giovambattista De Sarro, Franco Perticone, Luca Gallelli   +5 more
doaj   +1 more source

Early Diagnosis of Fanconi-Bickel Syndrome and a Novel Mutation inSLC2A2 Gene

Haseki Tıp Bülteni, 2019
Fanconi-Bickel syndrome is a metabolic disease caused by mutations in SCL2A2 gene. Hepatic and renal glycogen storage, fasting hypoglycemia, and renal tubular dysfunction are characteristics of the disease that is usually diagnosed at 6-10 months of age.
Ezgi Çelikboya, Mehmet Şerif Cansever, Tanyel Zübarioğlu, Gözde Yeşil, Nurver Akıncı   +4 more
doaj   +1 more source

Denosumab improves clinical manifestations of hypophosphatemic osteomalacia by adefovir-induced Fanconi syndrome: a case report

Journal of Medical Case Reports, 2019
Background Adefovir dipivoxil is a nucleotide analogue that is approved for treatment of chronic hepatitis B. Adefovir dipivoxil is associated with proximal tubular dysfunction, resulting in Fanconi syndrome, which can cause secondary hypophosphatemic ...
Tomohisa Kunii, Toshie Iijima, Teruo Jojima, Masanori Shimizu, Masato Kase, Shintaro Sakurai, Takahiko Kogai, Isao Usui, Yoshimasa Aso   +8 more
doaj   +1 more source

Fanconi–Bickel syndrome in a Ugandan child – diagnostic challenges in resource-limited settings: a case report

Journal of Medical Case Reports, 2020
Background Fanconi–Bickel syndrome is an autosomal recessive disorder of glucose metabolism. It is an extremely rare disorder. Most cases have been reported in consanguineous communities.
Thereza Piloya, Hawa Ssematala, Lydia Paparu Dramani, Oliva Nalikka, Miriam Baluka, Victor Musiime   +5 more
doaj   +1 more source

Bilateral anterior uveitis associated with Fanconi syndrome and tubulointerstitial nephritis: A case report and review of literature

Indian Journal of Ophthalmology. Case Reports
Tubulointerstitial nephritis and uveitis (TINU) syndrome is a rare inflammatory disease affecting the renal tubules and uveal tract. Although the etiology of TINU remains uncertain, it has been associated with multiple immunologic conditions and human ...
Chellarani Kumarasamy, Aniruddha Agarwal, Ricardo Valjalo   +2 more
doaj   +1 more source

Osteomalacia, renal Fanconi syndrome, and bone tumor

Journal of International Medical Research, 2018
We herein report two cases of Fanconi syndrome with refractory hypophosphatemic osteomalacia that was difficult to correct by phosphorus replacement therapy.
Manting Gou, Zhongshu Ma
doaj   +1 more source

Frequency and natural history of inherited bone marrow failure syndromes: the Israeli Inherited Bone Marrow Failure Registry

Haematologica, 2010
Background Inherited bone marrow failure syndromes are rare genetic disorders characterized by bone marrow failure, congenital anomalies, and cancer predisposition.
Hannah Tamary, Daniella Nishri, Joanne Yacobovich, Rama Zilber, Orly Dgany, Tanya Krasnov, Shraga Aviner, Polina Stepensky, Shoshana Ravel-Vilk, Menachem Bitan, Chaim Kaplinsky, Ayelet Ben Barak, Ronit Elhasid, Joseph Kapelusnik, Ariel Koren, Carina Levin, Dina Attias, Ruth Laor, Isaac Yaniv, Philip S. Rosenberg, Blanche P. Alter   +20 more
doaj   +1 more source

Systemic lupus erythematosus complicated with Fanconi syndrome: a case report and literature review

Frontiers in Pediatrics
BackgroundSystemic lupus erythematosus is an autoimmune disease with diverse clinical manifestations. The symptoms of SLE in children are more atypical than adults. Childhood SLE complicated with Fanconi syndrome is extremely rare and even more difficult
Lili Lou, Lili Lou, Hui Guo, Hui Guo, Meiying Shao   +4 more
doaj   +1 more source