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Fanconi syndrome in children

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https://www.readbyqxmd.com/read/28801981/pregnancy-outcomes-in-mothers-of-offspring-with-inherited-bone-marrow-failure-syndromes
#1
Neelam Giri, Helen D Reed, Pamela Stratton, Sharon A Savage, Blanche P Alter
BACKGROUND: Children with inherited bone marrow failure syndromes (IBMFSs) may be symptomatic in utero, resulting in maternal and fetal problems during the pregnancy. Subsequent pregnancies by their mothers should be considered "high risk". METHODS: We retrospectively analyzed outcomes of 575 pregnancies in 165 unaffected mothers of offspring with Fanconi anemia (FA), dyskeratosis congenita (DC), Diamond-Blackfan anemia (DBA), and Shwachman-Diamond syndrome (SDS) for events noted during pregnancy, labor, and delivery...
August 12, 2017: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/28689437/the-effect-of-antiepileptic-drugs-on-the-kidney-function-and-structure
#2
REVIEW
Sherifa Ahmed Hamed
Long-term use of antiepileptic drugs (AEDs) is associated with number of somatic conditions. Data from experimental, cross-sectional and prospective studies have evidence for the deleterious effect of some AEDs on the kidney. Areas covered: This review summarized the current knowledge of the effect of AEDs on the kidney including evidence and mechanisms. Fanconi syndrome was reported with valproate (VPA) therapy in severely disabled children with epilepsy. Renal tubular acidosis and urolithiasis were reported with acetazolamide, topirmate and zonisamide, drugs with carbonic anhydrase inhibition properties...
September 2017: Expert Review of Clinical Pharmacology
https://www.readbyqxmd.com/read/28623394/disease-specific-hematopoietic-stem-cell-transplantation-in-children-with-inherited-bone-marrow-failure-syndromes
#3
Qian Li, Changying Luo, Chengjuan Luo, Jianmin Wang, Benshang Li, Lixia Ding, Jing Chen
Hematopoietic stem cell transplantation (HSCT) using an optimized conditioning regimen is essential for the long-term survival of patients with inherited bone marrow failure syndromes (IBMFS). We report HSCT in 24 children with Fanconi anemia (FA, n = 12), Diamond-Blackfan anemia (DBA, n = 7), and dyskeratosis congenita (DC, n = 5) from a single HSCT center. The graft source was peripheral blood stem cells (n = 19) or cord blood stem cells (n = 5). FA and DC patients received reduced-intensity conditioning, while DBA patients had myeloablative conditioning...
August 2017: Annals of Hematology
https://www.readbyqxmd.com/read/28572264/recommendations-for-childhood-cancer-screening-and-surveillance-in-dna-repair-disorders
#4
REVIEW
Michael F Walsh, Vivian Y Chang, Wendy K Kohlmann, Hamish S Scott, Christopher Cunniff, Franck Bourdeaut, Jan J Molenaar, Christopher C Porter, John T Sandlund, Sharon E Plon, Lisa L Wang, Sharon A Savage
DNA repair syndromes are heterogeneous disorders caused by pathogenic variants in genes encoding proteins key in DNA replication and/or the cellular response to DNA damage. The majority of these syndromes are inherited in an autosomal-recessive manner, but autosomal-dominant and X-linked recessive disorders also exist. The clinical features of patients with DNA repair syndromes are highly varied and dependent on the underlying genetic cause. Notably, all patients have elevated risks of syndrome-associated cancers, and many of these cancers present in childhood...
June 1, 2017: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
https://www.readbyqxmd.com/read/28500741/mouth-examination-performance-by-children-s-parents-and-by-adolescents-in-fanconi-anemia
#5
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/28486441/bone-mineral-density-in-patients-with-inherited-bone-marrow-failure-syndromes
#6
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 the 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...
September 2017: Pediatric Research
https://www.readbyqxmd.com/read/28276300/value-of-renal-biopsy-in-diagnosing-infantile-nephropathic-cystinosis-associated-with-secondary-nephrogenic-diabetes-insipidus
#7
Emily Joyce, Jacqueline Ho, Areeg El-Gharbawy, Cláudia M Salgado, Sarangarajan Ranganathan, Miguel Reyes-Múgica
Cystinosis is the most common cause of inherited renal Fanconi syndrome in young children, and typically presents with laboratory findings of a proximal tubulopathy and corneal crystals by one year of age. We describe here renal biopsy findings in a 20-month-old patient with an atypical presentation of distal renal tubular acidosis, diabetes insipidus, and the absence of corneal crystals. Although renal biopsy is usually not necessary to establish the diagnosis of cystinosis, when the patient presents with atypical signs and symptoms, a renal biopsy may be extremely valuable...
January 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/28188436/clinical-and-molecular-aspects-of-distal-renal-tubular-acidosis-in-children
#8
Martine T P Besouw, Marc Bienias, Patrick Walsh, Robert Kleta, William G Van't Hoff, Emma Ashton, Lucy Jenkins, Detlef Bockenhauer
BACKGROUND: Distal renal tubular acidosis (dRTA) is characterized by hyperchloraemic metabolic acidosis, hypokalaemia, hypercalciuria and nephrocalcinosis. It is due to reduced urinary acidification by the α-intercalated cells in the collecting duct and can be caused by mutations in genes that encode subunits of the vacuolar H(+)-ATPase (ATP6V1B1, ATP6V0A4) or the anion exchanger 1 (SLC4A1). Treatment with alkali is the mainstay of therapy. METHODS: This study is an analysis of clinical data from a long-term follow-up of 24 children with dRTA in a single centre, including a genetic analysis...
June 2017: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
https://www.readbyqxmd.com/read/28179273/radiation-free-alternative-donor-hct-for-fanconi-anemia-patients-results-from-a-prospective-multi-institutional-study
#9
MULTICENTER STUDY
Parinda A Mehta, Stella M Davies, Thomas Leemhuis, Kasiani Myers, Nancy A Kernan, Susan E Prockop, Andromachi Scaradavou, Richard J O'Reilly, David A Williams, Leslie Lehmann, Eva Guinan, David Margolis, K Scott Baker, Adam Lane, Farid Boulad
Fanconi anemia (FA) is an inherited bone marrow failure syndrome characterized by chromosomal fragility, progressive marrow failure, and cancer predisposition. Hematopoietic cell transplantation (HCT) is curative for FA-related marrow failure or leukemia, but both radiation exposure during transplant and graft-versus-host disease (GVHD) may increase risk of later malignancies of the head and neck and anogenital area. In this study, we tested a radiation-free conditioning regimen with a T-cell-depleted graft to eliminate radiation exposure and minimize early and late toxicities of transplant...
April 20, 2017: Blood
https://www.readbyqxmd.com/read/28116328/molecular-spectrum-and-differential-diagnosis-in-patients-referred-with-sporadic-or-autosomal-recessive-osteogenesis-imperfecta
#10
Jose A Caparros-Martin, Mona S Aglan, Samia Temtamy, Ghada A Otaify, Maria Valencia, Julián Nevado, Elena Vallespin, Angela Del Pozo, Carmen Prior de Castro, Lucia Calatrava-Ferreras, Pilar Gutierrez, Ana M Bueno, Belen Sagastizabal, Encarna Guillen-Navarro, Maria Ballesta-Martinez, Vanesa Gonzalez, Sarenur Y Basaran, Ruksan Buyukoglan, Bilge Sarikepe, Cecilia Espinoza-Valdez, Francisco Cammarata-Scalisi, Victor Martinez-Glez, Karen E Heath, Pablo Lapunzina, Victor L Ruiz-Perez
BACKGROUND: Osteogenesis imperfecta (OI) is a heterogeneous bone disorder characterized by recurrent fractures. Although most cases of OI have heterozygous mutations in COL1A1 or COL1A2 and show autosomal dominant inheritance, during the last years there has been an explosion in the number of genes responsible for both recessive and dominant forms of this condition. Herein, we have analyzed a cohort of patients with OI, all offspring of unaffected parents, to determine the spectrum of variants accounting for these cases...
January 2017: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/27889724/phenotype-of-dent-disease-in-a-cohort-of-indian-children
#11
Swati Bhardwaj, Ranjeet Thergaonkar, Aditi Sinha, Pankaj Hari, Cheong Hi, Arvind Bagga
OBJECTIVE: To describe the clinical and genotypic features of Dent disease in children diagnosed at our center over a period of 10 years. DESIGN: Case series. SETTING: Pediatric Nephrology Clinic at a referral center in Northern India. METHODS: The medical records of patients with Dent disease diagnosed and followed up at this hospital from June 2005 to April 2015 were reviewed. The diagnosis of Dent disease was based on presence of all three of the following: (i) low molecular weight proteinuria, (ii) hypercalciuria and (iii) one of the following: nephrolithiasis, hematuria, hypophosphatemia or renal insufficiency, with or without mutation in CLCN5 or OCRL1 genes...
November 15, 2016: Indian Pediatrics
https://www.readbyqxmd.com/read/27617158/fanconi-bickel-syndrome-two-pakistani-patients-presenting-with-hypophosphatemic-rickets
#12
Bushra Afroze, Margaret Chen
Fanconi-Bickel syndrome is a rare inherited disorder characterized by hepatorenal glycogen accumulation, renal tubular dysfunction, growth failure, and impaired utilization of glucose and galactose. We report the first two children with Fanconi-Bickel syndrome from Pakistan who presented with classical features of Fanconi-Bickel Syndrome. Both patients were found to be homozygous for a single nucleotide deletion in the SLC2A2 gene defined as c.339delC. This mutation was previously described in an Arab patient who was initially presented as permanent neonatal diabetes mellitus before developing classical features of Fanconi-Bickel syndrome...
September 2016: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/27530658/brca2-functions-from-dna-repair-to-replication-fork-stabilization
#13
REVIEW
Amélie Fradet-Turcotte, Justine Sitz, Damien Grapton, Alexandre Orthwein
Maintaining genomic integrity is essential to preserve normal cellular physiology and to prevent the emergence of several human pathologies including cancer. The breast cancer susceptibility gene 2 (BRCA2, also known as the Fanconi anemia (FA) complementation group D1 (FANCD1)) is a potent tumor suppressor that has been extensively studied in DNA double-stranded break (DSB) repair by homologous recombination (HR). However, BRCA2 participates in numerous other processes central to maintaining genome stability, including DNA replication, telomere homeostasis and cell cycle progression...
October 2016: Endocrine-related Cancer
https://www.readbyqxmd.com/read/27487919/fanconi-bickel-syndrome-in-two-palestinian-children-marked-phenotypic-variability-with-identical-mutation
#14
Imad Mohammad Dweikat, Issa Shaher Alawneh, Sami Fares Bahar, Mutaz Idrees Sultan
BACKGROUND: Fanconi-Bickel syndrome (FBS, OMIM 227810) is a rare autosomal recessive disease caused by a deficiency of glucose transporter 2 (GLUT2), a member of the facilitative glucose transporter family (Santer et al. J Inherit Metab Dis 21:191-194, 1998). The typical clinical picture is characterized by hepatorenal glycogen accumulation resulting in hepato- and nephromegaly, impaired utilization of glucose and galactose, proximal renal tubular dysfunction, rickets and severe short stature...
August 4, 2016: BMC Research Notes
https://www.readbyqxmd.com/read/27479018/fulminant-liver-failure-in-a-child-with-%C3%AE-thalassemia-on-deferasirox-a-case-report
#15
Archie Ramaswami, Danya J Rosen, Jaime Chu, Birte Wistinghausen, Ronen Arnon
Deferesirox (DFX), an oral chelating agent, is used to treat chronic iron overload in several hematological diseases such as β-thalassemia, sickle cell disease, and myelodysplastic anemia. DFX is generally well tolerated with the exception of gastrointestinal disturbances and rash, although cases of renal toxicity, as well as acute and chronic liver failure, have been reported in adults and children. Here we describe a 3-year-old girl with β-thalassemia undergoing treatment with DFX who presented with acute liver failure and Fanconi's syndrome...
April 2017: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/27312164/management-of-chronic-immune-thrombocytopenia-in-children-and-adolescents-lessons-from-an-austrian-national-cross-sectional-study-of-81-patients
#16
J Sipurzynski, B Fahrner, R Kerbl, R Crazzolara, N Jones, G Ebetsberger, B Jauk, V Strenger, B Wohlmuther, W Schwinger, H Lackner, C Urban, W Holter, M Minkov, L Kager, M Benesch, M G Seidel
Chronic immune thrombocytopenia (cITP) is often associated with an underlying predisposition towards autoimmunity, recognition of which is relevant to guide treatment. International recommendations on diagnostic steps and therapeutic measures of cITP in childhood exist. However, due to the low prevalence (1-2/100,000) and a variation of availability of immunological and hematological tests and treatments across pediatric units, we postulated that these guidelines are not uniformly adhered to and that immune dysregulation syndromes remained undiscovered...
April 2016: Seminars in Hematology
https://www.readbyqxmd.com/read/27285993/next-generation-sequencing-reveals-germline-mutations-in-an-infant-with-synchronous-occurrence-of-nephro-and-neuroblastoma
#17
Johanna Theruvath, Alexandra Russo, Bettina Kron, Claudia Paret, Arthur Wingerter, Khalifa El Malki, Marie A Neu, Francesca Alt, Gundula Staatz, Raimund Stein, Larissa Seidmann, Dirk Prawitt, Jörg Faber
Although neuro- and nephroblastoma are common solid tumors in children, the simultaneous occurrence is very rare and is often associated with syndromes. Here, we present a unique case of synchronous occurrence of neuro- and nephroblastoma in an infant with no signs of congenital anomalies or a syndrome. We performed genetic testing for possible candidate genes as underlying mutation using the next-generation sequencing (NGS) approach to target 94 genes and 284 single-nucleotide polymorphisms (SNPs) involved in cancer...
May 2016: Pediatric Hematology and Oncology
https://www.readbyqxmd.com/read/27102039/cystinosis-a-review
#18
REVIEW
Mohamed A Elmonem, Koenraad R Veys, Neveen A Soliman, Maria van Dyck, Lambertus P van den Heuvel, Elena Levtchenko
Cystinosis is the most common hereditary cause of renal Fanconi syndrome in children. It is an autosomal recessive lysosomal storage disorder caused by mutations in the CTNS gene encoding for the carrier protein cystinosin, transporting cystine out of the lysosomal compartment. Defective cystinosin function leads to intra-lysosomal cystine accumulation in all body cells and organs. The kidneys are initially affected during the first year of life through proximal tubular damage followed by progressive glomerular damage and end stage renal failure during mid-childhood if not treated...
April 22, 2016: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/27082377/fanconi-syndrome-secondary-to-deferasirox-in-diamond-blackfan-anemia-case-series-and-recommendations-for-early-diagnosis
#19
REVIEW
Koyelle Papneja, Mihir D Bhatt, Melanie Kirby-Allen, Steven Arora, John T Wiernikowski, Uma H Athale
Deferasirox is an oral iron chelator used to treat patients with transfusion-related iron overload. We report, from two institutions, two children with Diamond-Blackfan anemia who developed Fanconi syndrome secondary to deferasirox administration, along with a review of the literature. The current recommendation for the laboratory monitoring of patients receiving deferasirox does not include serum electrolytes or urine analysis. Thus, despite routine clinic visits and bloodwork, these two patients presented with life-threatening electrolyte abnormalities requiring hospitalization...
August 2016: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/27059748/novel-ocrl1-gene-mutations-in-six-chinese-families-with-lowe-syndrome
#20
Yan Gao, Fang Jiang, Zhi-Ying Ou
BACKGROUND: Lowe syndrome, an X-linked, inheritable disease with clinical symptoms of congenital cataracts, incomplete Fanconi syndrome, and mental retardation, has an approximate incidence of 1 in 500 000. Nearly 200 OCRL mutations related to Lowe syndrome have been found worldwide, with only ten mutations among the Chinese population. Since more mutations may exist in Chinese patients, we sequenced and analyzed the OCRL genes of six children with Lowe syndrome in a medical center in China...
November 2016: World Journal of Pediatrics: WJP
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