BACKGROUND Fanconi anemia is an inherited genomic instability syndrome associated with progressive bone marrow failure leading to death or the requirement for hematopoietic stem cell transplantation, acute myeloid leukemia, and solid tumors. Prior epidemiological studies have quantified the risks of bone marrow failure, acute myeloid leukemia and solid tumors, but these estimates have not been ...

Diamond Blackfan anemia (DBA) is an inherited bone marrow failure syndrome characterized by red cell aplasia and congenital anomalies. A predisposition to cancer has been suggested but not quantified by case reports. The DBA Registry of North America (DBAR) is the largest established DBA patient cohort, with prospective follow-up since 1991. This report presents the first quantitative assessmen...

Of nine women with hyperglobulinaemic renal tubular acidosis four presented with acidosis and five had the "incomplete" form of the disorder. Seven patients had nephrogenic diabetes insipidus, but none had the Fanconi syndrome. Investigation showed abnormal immunoglobulins and autoantibodies in all nine patients. Diseases coexisting with renal tubular acidosis were Sjögren's syndrome, hyperglob...

There are several reports of Fanconi syndrome (FS) with or without nephrogenic diabetes insipidus (NDI) in patients with human immunodeficiency virus (HIV) infection, treated with various antiretroviral medications like cidofovir, adefovir, didenosine and tenofovir. But neither FS nor NDI has been documented with abacavir therapy. We are reporting the first case of abacavir-induced reversible F...

The inherited bone marrow failure syndromes are traditionally considered to be pediatric disorders, but in fact, many of the patients now are diagnosed as adults, and many diagnosed as children now live to reach adulthood. The most common of these rare disorders include Fanconi anemia, dyskeratosis congenita, Shwachman-Diamond syndrome and amegakaryocytic thrombocytopenia, which often develop a...

RATIONALE We report a case of a hepatitis B virus (HBV)-positive patient with preexisting bone disease who developed tenofovir-induced Fanconi syndrome and subsequently sustained pathologic fracture. To our best knowledge, this is the first report in the English literature about pathologic femoral fracture due to tenofovir-induced Fanconi syndrome in patient with chronic hepatitis B (CHB). The ...

In addition to hemorrhagic cystitis, Fanconi Syndrome is a serious clinical side effect during ifosfamide (IFO) therapy. Fanconi syndrome is a generalized dysfunction of the proximal tubule which is characterized by excessive urinary excretion of glucose, phosphate, bicarbonate, amino acids and other solutes excreted by this segment of the nephron including L-carnitine. Carnitine is essential c...

Fanconi anemia (FA) is an inherited chromosomal recessive syndrome characterized by cellular hypersensitivity to DNA crosslinking agents and bone marrow failure, which cause aplastic anemia, and an increased incidence of malignancy. 13 complementation groups are currently discovered, and 13 distinct genes have been cloned (FANCA, FANCB, FANCC, FANCD1, FANCD2, FANCE, FANCF, FANCG, FNACI, FANCJ, ...

Uric Acid Transport in Fanconi Syndrome with Marked Renal Hypouricemia: Analysis Using Pyrazinamide and Benzbromarone Y. Yuji Moriwaki T. Tetsuya Yamamoto S. Sumio Takahashi K. Keisai Hiroishi J.-i. Jun-ichi Yamakita Y. Yumiko Nasako Y. Yutaka Naito K. Kazuya Higashino Third Department of Internal Medicine, Hyogo College of Medicine, and Sunago Ryouikuen, Institute for Severely Handicapped, Nis...

Ambrosius Schneider, Adam Wienand, Wolfgang Bickel, Ernst Coester (Hrsgg.), Die Cistercienser. Geschichte - Geist Kunst, Köln (Wienand) 1986 (3. Aufl.), 777 S.