keyword
https://read.qxmd.com/read/38534968/clinical-practice-guidelines-for-the-diagnosis-and-management-of-hereditary-fructose-intolerance
#1
JOURNAL ARTICLE
Félix Úbeda, Sonia Santander, María José Luesma
INTRODUCTION: Hereditary fructose intolerance or hereditary fructosemia is an autosomal recessive metabolic disorder caused by a loss of function in the aldolase B gene. This disorder affects 1 in 20,000 people, constituting a rare disease with a favorable prognosis through adherence to a fructose-free diet. Despite dietary management, chronic pathology may manifest, underscoring the importance of early diagnosis to mitigate adverse effects. However, early detection of the disease poses significant challenges...
February 23, 2024: Diseases (Basel)
https://read.qxmd.com/read/38523978/a-57-year-old-female-presenting-with-cardiopulmonary-arrest-secondary-to-severe-hypokalemia-from-a-fanconi-like-syndrome-a-case-report
#2
Christopher H Goss, Michael Robertson
Fanconi syndrome is a multi-factorial disorder that involves diffuse malfunction of the proximal convoluted tubule in the kidney. Renal wasting of potassium, glucose, bicarbonate, amino acids, and phosphorus characterize the condition. We report a case of a 57-year-old female who presented to our emergency department with cardiopulmonary arrest. After successful resuscitation, she had extensive workup to uncover the cause of her cardiac arrest. She had extensive negative workup but was found to have severely low potassium, prompting further evaluation...
February 2024: Curēus
https://read.qxmd.com/read/38522093/fanconi-anemia-neuroinflammatory-syndrome-fans-brain-lesions-and-neurologic-injury-in-fanconi-anemia
#3
JOURNAL ARTICLE
Allison L Bartlett, John E Wagner, Blaise V Jones, Susanne Wells, Anthony Sabulski, Christine Fuller, Stella M Davies
Fanconi anemia (FA) is a complex inherited bone marrow failure syndrome characterized by chromosomal instability and defective DNA repair causing sensitivity to DNA interstrand cross-linking agents. Our understanding of the full adult phenotype of the disease continues to evolve, as most patients with Fanconi Anemia died of marrow failure in the first decade of life prior to more recent advances in allogeneic hematopoietic cell transplantation. Herein, we report a previously undescribed, clinically concerning, progressive neurologic syndrome in patients with FA...
March 24, 2024: Blood Advances
https://read.qxmd.com/read/38519228/lysosomal-cystine-accumulation-activates-mtor-signaling-in-cystinosis-are-mtor-inhibitors-the-cure
#4
JOURNAL ARTICLE
Salómon Christer, Matias Simons
No abstract text is available yet for this article.
April 2024: Kidney International
https://read.qxmd.com/read/38510908/moyamoya-disease-in-a-child-with-fanconi-anemia-an-anomaly-or-a-complication
#5
Samin Alavi, Mitra Khalili, Zahra Khaffafpour, Negar Shams
Fanconi anemia (FA) is an inherited bone marrow failure syndrome associated with congenital anomalies and a predisposition to cancer. We report the case of a 9-year-old boy with FA who developed an abrupt onset of hemiplegia and dysarthria. The diagnosis of moyamoya disease (MMD) was suggested by magnetic resonance angiography (MRA) which demonstrated severe stenosis in the right internal carotid artery along with collateral vessel formation in the right basal ganglia. It is questioned whether the moyamoya pattern in this case is part of congenital malformations associated with FA or is the result of recurrent bleedings around the carotid siphon...
February 2024: Curēus
https://read.qxmd.com/read/38497679/hla-haploidentical-stem-cell-transplantation-in-children-with-inherited-bone-marrow-failure-syndromes-a-retrospective-analysis-on-behalf-of-ebmt-severe-aplastic-anemia-and-pediatric-diseases-working-parties
#6
JOURNAL ARTICLE
Stefano Giardino, Dirk-Jan Eikema, Brian Piepenbroek, Mattia Algeri, Mouhab Ayas, Maura Faraci, Abdelghani Tbakhi, Marco Zecca, Mohammed Essa, Bénédicte Neven, Yves Bertrand, Gaurav Kharya, Tatiana Bykova, Sarah Lawson, Mario Petrini, Alexander Mohseny, Fanny Rialland, Beki James, Anca Colita, Mony Fahd, Simone Cesaro, Ansgar Schulz, Katharina Kleinschmidt, Krzysztof Kałwak, Selim Corbacioglu, Carlo Dufour, Antonio Risitano, Régis Peffault de Latour
Haploidentical stem cell transplantation (haplo-SCT) represents the main alternative for children with inherited bone marrow failure syndrome (I-BMF) lacking a matched donor. This retrospective study, conducted on behalf of the EBMT SAAWP and PDWP, aims to report the current outcomes of haplo-SCT in I-BMFs, comparing the different in vivo and ex vivo T-cell depletion approaches. One hundred and sixty-two I-BMF patients who underwent haplo-SCT (median age 7.4 years) have been registered. Fanconi Anemia was the most represented diagnosis (70...
March 18, 2024: American Journal of Hematology
https://read.qxmd.com/read/38469557/corrigendum-case-report-multisystem-inflammatory-syndrome-in-children-with-associated-proximal-tubular-injury
#7
Silvia Maria Orsi, Carlotta Pepino, Lisa Rossoni, Margherita Serafino, Roberta Caorsi, Stefano Volpi, Serena Palmeri, Alessandro Faragli, Francesca Lugani, Carolina Bigatti, Gian Marco Ghiggeri, Enrico Eugenio Verrina, Edoardo La Porta, Andrea Angeletti
[This corrects the article DOI: 10.3389/fneph.2023.1194989.].
2024: Front Nephrol
https://read.qxmd.com/read/38454379/importance-about-use-of-high-throughput-sequencing-in-pediatric-case-report-of-a-patient-with-fanconi-bickel-syndrome
#8
JOURNAL ARTICLE
Hugo Hernán Abarca-Barriga, María Cristina Laso-Salazar, Diego Orihuela-Tacuri, Jenny Chirinos-Saire, Anahí Venero-Nuñez
BACKGROUND: Fanconi-Bickel syndrome is characterized by hepatorenal disease caused by anomalous glycogen storage. It occurs due to variants in the SLC2A2 gene. We present a male patient of 2 years 7 months old, with failure to thrive, hepatomegaly, metabolic acidosis, hypophosphatemia, hypokalemia, hyperlactatemia. RESULTS: Exome sequencing identified the homozygous pathogenic variant NM_000340.2(SLC2A2):c.1093 C > T (p.Arg365Ter), related with Fanconi-Bickel syndrome...
March 7, 2024: BMC Pediatrics
https://read.qxmd.com/read/38435900/delayed-irreversible-fanconi-syndrome-associated-with-vertebral-fracture-after-tenofovir-discontinuation
#9
Ghofran N Qorban, Jameelah Alyami, Shaza Samargandy, Tariq A Madani
The use of tenofovir disoproxil fumarate (TDF) as an antiretroviral agent has been reported to adversely affect both renal tubules and bone health, leading to pathological fractures. While such an effect is largely reversible, substituting TDF with tenofovir alafenamide (TAF) might result in lower rates of adverse events with the preservation of tenofovir effectiveness. We report a case of a 40-year-old lady with HIV infection who had a vertebral fragility fracture secondary to TDF-associated Fanconi syndrome...
January 2024: Curēus
https://read.qxmd.com/read/38433330/functional-characterization-of-hnf4a-gene-variants-identify-promoter-and-cell-line-specific-transactivation-effects
#10
JOURNAL ARTICLE
Alba Kaci, Marie Holm Solheim, Trine Silgjerd, Jorunn Hjaltadottir, Lorentze Hope Hornnes, Janne Molnes, Andre Madsen, Gry Sjøholt, Christine Bellanné-Chantelot, Richard Caswell, Jørn V Sagen, Pål R Njølstad, Ingvild Aukrust, Lise Bjørkhaug
Hepatocyte nuclear factor-4 alpha (HNF-4A) regulates genes with roles in glucose metabolism and β-cell development. Although pathogenic HNF4A variants are commonly associated with maturity-onset diabetes of the young (MODY1; HNF4A-MODY), rare phenotypes also include hyperinsulinemic hypoglycemia, renal Fanconi syndrome and liver disease. While the association of rare functionally damaging HNF1A variants with HNF1A-MODY and type 2 diabetes is well established owing to robust functional assays, the impact of HNF4A variants on HNF-4A transactivation in tissues including the liver and kidney is less known, due to lack of similar assays...
March 3, 2024: Human Molecular Genetics
https://read.qxmd.com/read/38365697/clinical-genetic-profile-and-therapy-evaluation-of-11-chinese-pediatric-patients-with-fanconi-bickel-syndrome
#11
JOURNAL ARTICLE
Taozi Du, Yu Xia, Chengkai Sun, Zhuwen Gong, Lili Liang, Zizhen Gong, Ruifang Wang, Deyun Lu, Kaichuang Zhang, Yi Yang, Yuning Sun, Manqing Sun, Yu Sun, Bing Xiao, Wenjuan Qiu
BACKGROUND: Fanconi-Bickel syndrome (FBS) is a rare autosomal recessive disorder characterized by impaired glucose and galactose utilization as well as proximal renal tubular dysfunction. METHODS: Clinical, biochemical, genetic, treatment, and follow-up data for 11 pediatric patients with FBS were retrospectively analysed. RESULTS: Hepatomegaly (10/11), short stature (10/11) and hypophosphataemic rickets (7/11) were the most common initial symptoms...
February 16, 2024: Orphanet Journal of Rare Diseases
https://read.qxmd.com/read/38357683/occurrence-of-fatal-tubulopathy-in-an-old-fit-patient-receiving-nivolumab-and-ipilimumab-for-metastatic-melanoma-a-case-report
#12
Marine Georgery, Aurélie Ram, Tess Van Meerhaeghe, Annie Drowart, Anne-Lorraine Clause, Lissandra Dal Lago, Héloïse Rouvière
INTRODUCTION: The use of immune checkpoint inhibitors has revolutionized cancer treatment, and their application to older people is considered safe by the scientific community. However, immune-related adverse events (irAEs) remain common, and their management poses significant challenges, especially in this population. CASE PRESENTATION: We report the case of a fit 82-year-old woman who developed immune-mediated colitis and Fanconi syndrome during treatment with ipilimumab and nivolumab for metastatic melanoma...
2024: Case Reports in Oncology
https://read.qxmd.com/read/38347290/identifying-an-aml-prognostic-model-using-10-marker-genes-from-single-cell-transcriptome-and-bulk-transcriptome-analysis
#13
JOURNAL ARTICLE
Fangyuan Zhang, Xiaohua Guo, Lihong Ye, Shicheng Yu
Fanconi anemia (FA) is the predominant hereditary syndrome of bone marrow failure (BMF), distinguished by impairments in DNA repair mechanisms. The deficiency in the FANC pathway, which governs DNA repair and replication rescue, results in aberrant responses to DNA damage in individuals with FA. The objective of this study is to examine the involvement of the FANC core complex in BMF and ascertain nucleolar homeostasis-related genes by conducting transcriptome analysis on primary hematopoietic stem cells obtained from FA patients with FANCA and FANCC variants...
February 12, 2024: Biochemical Genetics
https://read.qxmd.com/read/38344551/when-two-syndromes-collide-managing-fanconi-and-refeeding-syndrome-in-a-single-patient
#14
Francisco J Gallegos Koyner, Nelson Barrera, Prakriti Subedi, Karun Shrestha, Roberto Cerrud-Rodriguez
Refeeding syndrome is the potentially fatal shift in fluids and electrolytes that may occur in malnourished patients after receiving artificial refeeding. Its hallmark feature is hypophosphatemia, although other electrolytes might also be affected. Fanconi syndrome is a generalized dysfunction of the proximal tubule characterized by proximal renal tubular acidosis (RTA), phosphaturia, glycosuria, aminoaciduria, and proteinuria. The etiology of Fanconi syndrome can be either acquired or inherited, and drugs, among them tenofovir, are a common acquired cause of this disease...
January 2024: Curēus
https://read.qxmd.com/read/38310177/inherited-fanconi-renotubular-syndromes-unveiling-the-intricacies-of-hypophosphatemic-rickets-osteomalacia
#15
JOURNAL ARTICLE
Divya C Ragate, Saba Samad Memon, Manjiri Karlekar, Anurag Ranjan Lila, Vijaya Sarathi, Tukaram Jamale, Sayali Thakare, Virendra A Patil, Nalini S Shah, Tushar R Bandgar
INTRODUCTION: Fanconi renotubular syndromes (FRTS) are a rare group of inherited phosphaturic disorders with limited Indian as well as global data on this condition. Here, we describe the experience of a single Endocrinology center from Western India on FRTS. MATERIALS AND METHODS: Comprehensive clinical, biochemical, radiological, management, and genetic details of FRTS patients managed between 2010 and 2023 were collected and analyzed. RESULTS: FRTS probands had mutations (eight novel) in six genes [CLCN5 (n = 4), SLC2A2 (n = 2), GATM, EHHADH, HNF4A, and OCRL (1 each)]...
February 4, 2024: Journal of Bone and Mineral Metabolism
https://read.qxmd.com/read/38303850/the-onset-and-progression-of-oral-potentially-malignant-disorders-in-fanconi-anemia-patients-highlighting-early-detection-of-oral-cancer
#16
JOURNAL ARTICLE
Yuanyuan Long, Chenxi Li, Xiaochen Zhang, Zhenhu Ren, Wei Liu
In 2020, Fanconi anemia (FA) was classified as a syndrome with insufficient epidemiological evidence in the oral potentially malignant disorder (OPMD) group by the WHO Collaborating Centre. The paucity of case reports on FA-associated OPMD limits evidence-based management, and such cases have not been analyzed collectively in detail. Hence, the objective of this short communication is to summarize the evidence on the onset and progression of OPMD in FA patients, so as to better understand the natural history of oral cancer development in patients affected by FA...
January 2024: Journal of Dental Sciences
https://read.qxmd.com/read/38267311/-suspicion-of-constitutional-abnormality-at-diagnosis-of-childhood-leukemia-update-of-the-leukemia-committee-of-the-french-society-of-childhood-cancers
#17
Marion Strullu, Elie Cousin, Sandrine de Montgolfier, Laurene Fenwarth, Nathalie Gachard, Isabelle Arnoux, Nicolas Duployez, Sandrine Girard, Audrey Guilmatre, Marina Lafage, Marie Loosveld, Arnaud Petit, Laurence Perrin, Yoan Vial, Paul Saultier
The spectrum of childhood leukemia predisposition syndromes has grown significantly over last decades. These predisposition syndromes mainly involve CEBPA, ETV6, GATA2, IKZF1, PAX5, RUNX1, SAMD9/SAMD9L, TP53, RAS-MAPK pathway, DNA mismatch repair system genes, genes associated with Fanconi anemia, and trisomy 21. The clinico-biological features leading to the suspicion of a leukemia predisposition are highly heterogeneous and require varied exploration strategies. The study of the initial characteristics of childhood leukemias includes high-throughput sequencing techniques, which have increased the frequency of situations where a leukemia predisposing syndrome is suspected...
January 23, 2024: Bulletin du Cancer
https://read.qxmd.com/read/38224843/renal-transplantation-for-infantile-and-juvenile-cystinosis-two-case-report-and-review-of-the-literature
#18
Karen El Ghoul, Dany Akiki, Nagi Nawfal, Maroun Abou Jaoude
Cystinosis is a rare autosomal recessive lysosomal storage disorder characterized by cystine buildup in various tissues, including the kidneys. Renal involvement is the primary manifestation, leading to end-stage renal disease (ESRD) if left untreated. Kidney transplantation (KT) in patients with cystinosis has significantly improved their prognosis for the disease outcome. Detailed reports on preoperative and Long-term postoperative management in these patients remain sparse. This report discusses the outcomes of two young adult patients of Middle Eastern descent with cystinosis who underwent KT...
January 14, 2024: Transplant Immunology
https://read.qxmd.com/read/38146508/the-emergence-of-fanconi-anaemia-type-s-a-phenotypic-spectrum-of-biallelic-brca1-mutations
#19
REVIEW
Tirion Hughes, Anna M Rose
BRCA1 is involved in the Fanconi anaemia (FA) pathway, which coordinates repair of DNA interstrand cross-links. FA is a rare genetic disorder characterised by bone marrow failure, cancer predisposition and congenital abnormalities, caused by biallelic mutations affecting proteins in the FA pathway. Germline monoallelic pathogenic BRCA1 mutations are known to be associated with hereditary breast/ovarian cancer, however biallelic mutations of BRCA1 were long predicted to be incompatible with embryonic viability, hence BRCA1 was not considered to be a canonical FA gene...
2023: Frontiers in Oncology
https://read.qxmd.com/read/38127152/extrarenal-complications-of-cystinosis
#20
REVIEW
Rezan Topaloglu
Cystinosis is a rare autosomal recessive disease with an incidence 1 per 100,000-200,000 live births. It is caused by pathogenic variants of the cystinosin (CTNS) gene that lead to impaired cystine transport from lysosomes to cystosol, resulting in cystine accumulation in lysosomes and subsequent cellular dysfunction. The initial manifestation, cystine accumulation in proximal tubular cells (PTCs), causes renal Fanconi syndrome, which presents with proximal renal tubular acidosis and generalized dysfunction of the proximal tubule, including the presence of polyuria, glycosuria, phosphaturia, aminoaciduria, tubular proteinuria, growth retardation, and rickets...
December 21, 2023: Pediatric Nephrology
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