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Fanconi syndrome

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https://www.readbyqxmd.com/read/28533057/late-effects-screening-guidelines-after-hematopoietic-cell-transplantation-hct-for-inherited-bone-marrow-failure-syndromes-ibmfs-consensus-statement-from-the-second-pediatric-blood-and-marrow-transplant-consortium-international-conference-on-late-effects-after
#1
REVIEW
Andrew C Dietz, Sharon A Savage, Adrianna Vlachos, Parinda A Mehta, Dorine Bresters, Jakub Tolar, Carmem Bonfim, Jean Hugues Dalle, Josu de la Fuente, Roderick Skinner, Farid Boulad, Christine N Duncan, K Scott Baker, Michael A Pulsipher, Jeffrey M Lipton, John E Wagner, Blanche P Alter
Patients with inherited bone marrow failure syndromes (IBMFS) such as Fanconi anemia (FA), dyskeratosis congenita (DC), and Diamond Blackfan anemia (DBA) can have hematologic manifestations cured through hematopoietic cell transplantation (HCT). Subsequent late effects seen in these patients arise from a combination of the underlying disease, the pre-HCT therapy, and the HCT process. During the international consensus conference sponsored by the Pediatric Blood and Marrow Transplant Consortium entitled "Late Effects Screening and Recommendations Following Allogeneic Hematopoietic Cell Transplant for Immune Deficiency and Nonmalignant Hematologic Disease" held in Minneapolis, Minnesota in May of 2016, a half-day session was focused specifically on the unmet needs for these patients with IBMFS...
May 19, 2017: Biology of Blood and Marrow Transplantation
https://www.readbyqxmd.com/read/28527242/-small-cell-lung-cancer-associated-with-multiple-paraneoplastic-syndromes
#2
Diana L Franco, Leslie Thomas
We report the case of a patient presenting with multiple severe electrolyte disturbances who was subsequently found to have small cell lung cancer. Upon further evaluation, she demonstrated three distinct paraneoplastic processes, including the syndrome of inappropriate antidiuretic hormone, Fanconi syndrome, and an inappropriate elevation in fibroblast growth factor-23 (FGF23). The patient underwent one round of chemotherapy, but she was found to have progressive disease. After 36 days of hospitalization, the patient made the decision to enter hospice care and later she expired...
January 24, 2017: Biomédica: Revista del Instituto Nacional de Salud
https://www.readbyqxmd.com/read/28515908/renal-manifestations-of-primary-mitochondrial-disorders
#3
Josef Finsterer, Fulvio Scorza
The aim of the present review was to summarize and discuss previous findings concerning renal manifestations of primary mitochondrial disorders (MIDs). A literature review was performed using frequently used databases. The study identified that primary MIDs frequently present as mitochondrial multiorgan disorder syndrome (MIMODS) at onset or in the later course of the MID. Occasionally, the kidneys are affected in MIDs. Renal manifestations of MIDs include renal insufficiency, nephrolithiasis, nephrotic syndrome, renal cysts, renal tubular acidosis, Bartter-like syndrome, Fanconi syndrome, focal segmental glomerulosclerosis, tubulointerstitial nephritis, nephrocalcinosis, and benign or malign neoplasms...
May 2017: Biomedical Reports
https://www.readbyqxmd.com/read/28509132/transient-fanconi-syndrome-in-two-preterm-infants-with-hydronephrosis-and-urinary-tract-infection
#4
Takahiro Tominaga, Takeshi Sato, Yosuke Ichihashi, Naoko Amano, Yasuaki Kobayashi, Midori Awazu
Type IV renal tubular acidosis is known to occur in obstructive uropathy with urinary tract infection. Fanconi syndrome, however, has not been described in these settings. We report two preterm infants who developed Fanconi syndrome associated with hydronephrosis and urinary tract infection. Patient 1 is a boy with 21 trisomy, bilateral renal hypoplasia and bilateral vesicoureteral reflux delivered at 35 weeks' gestation. At postnatal day 42, he developed Fanconi syndrome after urinary tract infection, which persisted until the surgical correction of vesicoureteral reflux...
May 2017: CEN Case Reports
https://www.readbyqxmd.com/read/28509131/growth-hormone-therapy-for-a-patient-with-idiopathic-fanconi-syndrome-and-growth-hormone-deficiency
#5
Takayuki Okamoto, Yasuyuki Sato, Takeshi Yamazaki, Asako Hayashi, Toshiyuki Takahashi
Idiopathic Fanconi syndrome (FS) is characterized by a generalized dysfunction of the renal proximal tubules. Patients with FS often exhibit growth retardation due to complex factors, such as hypophosphatemia, metabolic acidosis, disturbed vitamin D metabolism and hypokalemia. To date, one FS patient has been reported to exhibit growth failure due to growth hormone deficiency (GHD), but the long-term clinical course of recombinant human GH (rhGH) therapy has not been reported. At 10 months of age, the patient was admitted to our hospital due to growth failure...
May 2017: CEN Case Reports
https://www.readbyqxmd.com/read/28508985/light-chain-fanconi-syndrome-in-a-patient-with-acute-myeloid-leukemia-and-monoclonal-gammopathy-of-undetermined-significance
#6
Daniel W Ross, Rimda Wanchoo, Adriana Guigova, Cristina Ghiuzeli, Steven L Allen, Kenar D Jhaveri
Proximal tubules are a target for paraproteinemic diseases. Cast nephropathy, light chain deposition diseases, and amyloidosis are frequently encountered in patients with multiple myeloma. Rarely, a subset of patients develop light chain Fanconi syndrome (LCFS). LCFS has been reported with multiple myeloma, monoclonal gammopathy of renal significance (MGRS), chronic lymphocytic leukemia, Waldenstrom's macroglobulinemia and diffuse large B-cell lymphoma. No cases have been described with other hematologic malignancies...
November 2016: CEN Case Reports
https://www.readbyqxmd.com/read/28502327/fanconi-anemia-and-laron-syndrome
#7
Inma Castilla-Cortazar, Julieta Rodriguez de Ita, Gabriel Amador Aguirre, Fabiola Castorena-Torres, Jesús Ortiz-Urbina, Mariano García-Magariño, Rocío García de la Garza, Carlos Diaz Olachea, Martha Irma Elizondo Leal
BACKGROUND: Fanconi anemia (FA) is a condition characterized by genetic instability and short stature, which is due to growth hormone (GH) deficiency in most cases. However, no apparent relationships have been identified between FA complementation group genes and GH. In this study, we thereby considered an association between FA and Laron syndrome (LS) (insulin-like growth factor 1 [IGF-1] deficiency). METHODS: A 21-year-old female Mexican patient with a genetic diagnosis of FA was referred to our research department for an evaluation of her short stature...
May 2017: American Journal of the Medical Sciences
https://www.readbyqxmd.com/read/28500741/mouth-examination-performance-by-children-s-parents-and-by-adolescents-in-fanconi-anemia
#8
Allana Pivovar, Camila Pinheiro Furquim, Carmem Bonfim, Cassius Carvalho Torres-Pereira
BACKGROUND: Fanconi anemia (FA) is a rare genetic syndrome characterized by increased risk of developing malignant neoplasms, particularly oral squamous cell carcinoma. This study aims to ascertain the extent to which adolescents and guardians/parents of children with FA are aware of their oral cancer risks and assess their ability to perform mouth examination (ME). PROCEDURE: A cross-sectional study was conducted among patients with FA (between 6 and 16 years) and their parents...
May 13, 2017: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/28497274/endocytic-receptor-lrp2-megalin-of-holoprosencephaly-and-renal-fanconi-syndrome
#9
REVIEW
Thomas E Willnow, Annabel Christ
Megalin (or LRP2) is an endocytic receptor that plays a central role in embryonic development and adult tissue homeostasis. Loss of this receptor in congenital or acquired diseases results in multiple organ dysfunctions, including forebrain malformation (holoprosencephaly) and renal reabsorption defects (renal Fanconi syndrome). Here, we describe current concepts of the mode of receptor action that include co-receptors and a repertoire of different ligands, and we discuss how these interactions govern functional integrity of the kidney and the brain, and cause disease when defective...
May 11, 2017: Pflügers Archiv: European Journal of Physiology
https://www.readbyqxmd.com/read/28493372/glycosuria-and-hyperglycemia-in-the-neonatal-period-as-the-first-clinical-sign-of-fanconi-bickel-syndrome
#10
María Pilar Bahíllo-Curieses, Rebeca Garrote-Molpeceres, María Miñambres-Rodríguez, M Rosa Del Real-Llorente, Cristina Tobar-Mideros, Sara Rellán-Rodríguez
Fanconi-Bickel syndrome is a rare inherited disease characterized by the combination of hepatorenal glycogen accumulation, proximal renal tubular dysfunction and impaired utilization of glucose and galactose. The first symptoms of the disorder are recognized in late infancy as clinical characteristics appear. Therapeutic approach is mainly conservative with supplements of calcium, phosphate and vitamin D and small frequent feedings to avoid hypoglycemia. We report 1 clinical case of very early diagnosis, a 19 days old baby girl, in which the first clinical sign of the disease was the detection of glycosuria and vomits...
May 11, 2017: Pediatric Diabetes
https://www.readbyqxmd.com/read/28486441/bone-mineral-density-in-patients-with-inherited-bone-marrow-failure-syndromes
#11
Roopa Kanakatti Shankar, Neelam Giri, Maya B Lodish, Ninet Sinaii, James C Reynolds, Sharon A Savage, Constantine A Stratakis, Blanche P Alter
BACKGROUNDPatients with inherited bone marrow failure syndromes (IBMFS) may have several risk factors for low bone mineral density (BMD). We aimed to evaluate the prevalence of low BMD in IBMFS and determine associated risk factors.METHODSPatients with IBMFS with at least one Dual Energy X-ray absorptiometry (DXA) scan were evaluated. Diagnosis of each IBMFS, Fanconi anemia (FA), dyskeratosis congenita, Diamond-Blackfan anemia, and Shwachman-Diamond syndrome, was confirmed by syndrome-specific tests. Data were gathered on age, height and clinical history...
May 9, 2017: Pediatric Research
https://www.readbyqxmd.com/read/28476317/evolution-structure-and-membrane-association-of-ndufaf6-an-assembly-factor-for-nadh-ubiquinone-oxidoreductase-complex-i
#12
Bernard D Lemire
The NADH:ubiquinone oxidoreductase (complex I) is the largest member of the mitochondrial respiratory chain. Its FMN cofactor accepts two electrons from NADH and transfers them to ubiquinone via a chain of iron-sulphur centers. A central core of 14 highly conserved subunits can couple electron transfer to proton translocation. The mammalian enzyme has an additional ~30 accessory subunits. Complex I has important bioenergetic and metabolic functions and is a known source of reactive oxygen species; these functions link it to a number of hereditary and degenerative diseases...
May 2, 2017: Mitochondrion
https://www.readbyqxmd.com/read/28475398/persistent-response-of-fanconi-anemia-haematopoietic-stem-and-progenitor-cells-to-oxidative-stress
#13
Yibo Li, Surya Amarachintha, Andrew F Wilson, Xue Li, Wei Du
Oxidative stress is considered as an important pathogenic factor in many human diseases including Fanconi anemia (FA), an inherited bone marrow failure syndrome with extremely high risk of leukemic transformation. Members of the FA protein family are involved in DNA damage and other cellular stress responses. Loss of FA proteins renders cells hypersensitive to oxidative stress and cancer transformation. However, how FA cells respond to oxidative DNA damage remains unclear. By using an in vivo stress-response mouse strain expressing the Gadd45β-luciferase transgene, we show here that haematopoietic stem and progenitor cells (HSPCs) from mice deficient for the FA gene Fanca or Fancc persistently responded to oxidative stress...
May 5, 2017: Cell Cycle
https://www.readbyqxmd.com/read/28474441/how-i-manage-patients-with-fanconi-anaemia
#14
REVIEW
Carlo Dufour
Fanconi Anaemia is a rare, genetic heterogeneous multisystem disease that is the most common congenital syndrome of marrow failure. Twenty genes have been reported to cause the disease. Remarkable progress has been made over the last 20 years in the understanding of the genetic and pathophysiological mechanisms. Unfortunately, these advances have not been completely paralleled by advances in medical treatment, where the most important component remains stem cell transplantation. This therapy, although contributing to long-term negative effects, such as increased occurrence of late malignancies, is the only current option capable of prolonging the survival of patients...
May 5, 2017: British Journal of Haematology
https://www.readbyqxmd.com/read/28458902/hyperinsulinaemic-hypoglycaemia-renal-fanconi-syndrome-and-liver-disease-due-to-a-mutation-in-the-hnf4a-gene
#15
María Clemente, Alejandro Vargas, Gema Ariceta, Rosa Martínez, Ariadna Campos, Diego Yeste
SUMMARY: HNF4A gene mutations have been reported in cases of transient and persistent hyperinsulinaemic hypoglycaemia of infancy (HHI), particularly in families with adulthood diabetes. The case of a patient with HHI, liver impairment and renal tubulopathy due to a mutation in HNF4A is reported. LEARNING POINTS: Urine specimen study in cases of HHI with diazoxide response is necessary to rule out specific metabolic conditions (l-3-hydroxyacyl-coenzyme A dehydrogenase deficiency) or tubular renal involvement...
2017: Endocrinology, Diabetes & Metabolism Case Reports
https://www.readbyqxmd.com/read/28440412/a-rare-fanca-gene-variation-as-a-breast-cancer-susceptibility-allele-in-an-iranian-population
#16
Sakineh Abbasi, Mina Rasouli
Fanconi Anemia (FA) is an autosomal recessive syndrome characterized by congenital abnormalities, progressive bone marrow failure and Fanconi anemia complementation group A (FANCA) is also a potential breast and ovarian cancer susceptibility gene. A novel allele with tandem duplication of 13 base pair sequence in promoter region was identified. To investigate whether the 13 base pair sequence of tandem duplication in promoter region of the FANCA gene is of high penetrance in patients with breast cancer and to determine if the presence of the duplicated allele was associated with an altered risk of breast cancer, the present study screened DNA in blood samples from 304 breast cancer patients and 295 normal individuals as controls...
June 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28403627/resolution-of-tenofovir-disoproxil-fumarate-induced-fanconi-syndrome-with-switch-to-tenofovir-alafenamide-fumarate-in-a-hiv-1-and-hepatitis-b-co-infected-patient
#17
Maile Karris
Fanconi syndrome is a rare adverse effect of tenfovir disoproxil fumarate (TDF) (1). Tenofovir alafenamide fumarate (TAF) is a novel pro-drug with less nephrotoxicity. We report resolution of Fanconi syndrome in a HIV and hepatitis B co-infected patient switched from TDF to TAF.
April 13, 2017: AIDS Research and Human Retroviruses
https://www.readbyqxmd.com/read/28391286/basal-ganglia-calcification-with-tetanic-seizure-suggest-mitochondrial-disorder
#18
Josef Finsterer, Barbara Enzelsberger, Adam Bastowansky
BACKGROUND Basal ganglia calcification (BGC) is a rare sporadic or hereditary central nervous system (CNS) abnormality, characterized by symmetric or asymmetric calcification of the basal ganglia. CASE REPORT We report the case of a 65-year-old Gypsy female who was admitted for a tetanic seizure, and who had a history of polyneuropathy, restless-leg syndrome, retinopathy, diabetes, hyperlipidemia, osteoporosis with consecutive hyperkyphosis, cervicalgia, lumbalgia, struma nodosa requiring thyroidectomy and consecutive hypothyroidism, adipositas, resection of a vocal chord polyp, arterial hypertension, coronary heart disease, atheromatosis of the aorta, peripheral artery disease, chronic obstructive pulmonary disease, steatosis hepatis, mild renal insufficiency, long-term hypocalcemia, hyperphosphatemia, impingement syndrome, spondylarthrosis of the lumbar spine, and hysterectomy...
April 9, 2017: American Journal of Case Reports
https://www.readbyqxmd.com/read/28386063/case-control-analysis-of-truncating-mutations-in-dna-damage-response-genes-connects-tex15-and-fancd2-with-hereditary-breast-cancer-susceptibility
#19
Tuomo Mantere, Anna Tervasmäki, Anna Nurmi, Katrin Rapakko, Saila Kauppila, Jiangbo Tang, Johanna Schleutker, Anne Kallioniemi, Jaana M Hartikainen, Arto Mannermaa, Pentti Nieminen, Riitta Hanhisalo, Sini Lehto, Maija Suvanto, Mervi Grip, Arja Jukkola-Vuorinen, Maria Tengström, Päivi Auvinen, Anders Kvist, Åke Borg, Carl Blomqvist, Kristiina Aittomäki, Roger A Greenberg, Robert Winqvist, Heli Nevanlinna, Katri Pylkäs
Several known breast cancer susceptibility genes encode proteins involved in DNA damage response (DDR) and are characterized by rare loss-of-function mutations. However, these explain less than half of the familial cases. To identify novel susceptibility factors, 39 rare truncating mutations, identified in 189 Northern Finnish hereditary breast cancer patients in parallel sequencing of 796 DDR genes, were studied for disease association. Mutation screening was performed for Northern Finnish breast cancer cases (n = 578-1565) and controls (n = 337-1228)...
April 6, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28382841/hepatocellular-carcinoma-in-fanconi-bickel-syndrome
#20
Jennifer Pogoriler, Allison F O'Neill, Stephan D Voss, Robert C Shamberger, Antonio R Perez-Atayde
Fanconi-Bickel syndrome is a rare autosomal recessive disorder due to mutations in the facilitative glucose transporter 2 ( GLUT2 or SLC2A2) gene resulting in excessive glycogen storage predominantly in the liver and kidney. Previous case reports of this condition have described liver biopsies with glycogen storage and variable steatosis and/or fibrosis. Unlike in other types of glycogen storage disease, hepatocellular adenomas and carcinomas have not been described to date in this syndrome. A 6-year-old boy with consanguineous parents had short stature, poorly controlled rickets, hepatosplenomegaly, and renal tubular dysfunction clinically consistent with Fanconi-Bickel Syndrome...
January 1, 2017: Pediatric and Developmental Pathology
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