Search Results

You are looking at 1 - 10 of 12 items for :

  • Familial hypocalciuric hypercalcemia x
Clear All
Alejandro García-Castaño Biocruces Bizkaia Health Research Institute, CIBERDEM, CIBERER, Barakaldo, Spain

Search for other papers by Alejandro García-Castaño in
Google Scholar
PubMed
Close
,
Leire Madariaga Biocruces Bizkaia Health Research Institute, CIBERDEM, CIBERER, Barakaldo, Spain
Hospital Universitario Cruces, UPV/EHU, Barakaldo, Spain

Search for other papers by Leire Madariaga in
Google Scholar
PubMed
Close
,
Sharona Azriel Hospital Infanta Sofia, Madrid, Spain

Search for other papers by Sharona Azriel in
Google Scholar
PubMed
Close
,
Gustavo Pérez de Nanclares Biocruces Bizkaia Health Research Institute, CIBERDEM, CIBERER, Barakaldo, Spain
Hospital Universitario Cruces, UPV/EHU, Barakaldo, Spain

Search for other papers by Gustavo Pérez de Nanclares in
Google Scholar
PubMed
Close
,
Idoia Martínez de LaPiscina Biocruces Bizkaia Health Research Institute, CIBERDEM, CIBERER, Barakaldo, Spain

Search for other papers by Idoia Martínez de LaPiscina in
Google Scholar
PubMed
Close
,
Rosa Martínez Biocruces Bizkaia Health Research Institute, CIBERDEM, CIBERER, Barakaldo, Spain

Search for other papers by Rosa Martínez in
Google Scholar
PubMed
Close
,
Inés Urrutia Biocruces Bizkaia Health Research Institute, CIBERDEM, CIBERER, Barakaldo, Spain

Search for other papers by Inés Urrutia in
Google Scholar
PubMed
Close
,
Aníbal Aguayo Biocruces Bizkaia Health Research Institute, CIBERDEM, CIBERER, Barakaldo, Spain
Hospital Universitario Cruces, UPV/EHU, Barakaldo, Spain

Search for other papers by Aníbal Aguayo in
Google Scholar
PubMed
Close
,
Sonia Gaztambide Biocruces Bizkaia Health Research Institute, CIBERDEM, CIBERER, Barakaldo, Spain
Hospital Universitario Cruces, UPV/EHU, Barakaldo, Spain

Search for other papers by Sonia Gaztambide in
Google Scholar
PubMed
Close
, and
Luis Castaño Biocruces Bizkaia Health Research Institute, CIBERDEM, CIBERER, Barakaldo, Spain
Hospital Universitario Cruces, UPV/EHU, Barakaldo, Spain

Search for other papers by Luis Castaño in
Google Scholar
PubMed
Close

Background Familial hypocalciuric hypercalcemia type I (FHH1, OMIM #145980) is an autosomal dominant disorder transmitted with a high degree of penetrance and characterized by moderately elevated serum calcium concentrations, low urinary

Open access
Katsumi Taki Department of Internal Medicine, Fujiyoshida Municipal Medical Center, Yamanashi, 403-0005, Japan

Search for other papers by Katsumi Taki in
Google Scholar
PubMed
Close
,
Takahiko Kogai Department of Infection Control and Clinical Laboratory Medicine, Dokkyo Medical University, Tochigi, 321-0293, Japan

Search for other papers by Takahiko Kogai in
Google Scholar
PubMed
Close
,
Junko Sakumoto Department of Infection Control and Clinical Laboratory Medicine, Dokkyo Medical University, Tochigi, 321-0293, Japan

Search for other papers by Junko Sakumoto in
Google Scholar
PubMed
Close
,
Takashi Namatame Clinical Research Center, Dokkyo Medical University, Tochigi, 321-0293, Japan

Search for other papers by Takashi Namatame in
Google Scholar
PubMed
Close
, and
Akira Hishinuma Department of Infection Control and Clinical Laboratory Medicine, Dokkyo Medical University, Tochigi, 321-0293, Japan

Search for other papers by Akira Hishinuma in
Google Scholar
PubMed
Close

familial hypocalciuric hypercalcemia (FHH), an autosomal-dominant asymptomatic disorder with mild or moderate hypercalcemia. Infants that are heterozygous for CASR mutations may present neonatal hyperparathyroidism (NHPT) with moderate hypercalcemia and a

Open access
E Mogas Department of Pediatric Endocrinology, Children’s University Hospital Vall Hebron, Barcelona, Spain
Autonomous University of Barcelona, Barcelona, Spain

Search for other papers by E Mogas in
Google Scholar
PubMed
Close
,
A Campos-Martorell Department of Pediatric Endocrinology, Children’s University Hospital Vall Hebron, Barcelona, Spain
Autonomous University of Barcelona, Barcelona, Spain

Search for other papers by A Campos-Martorell in
Google Scholar
PubMed
Close
,
M Clemente Department of Pediatric Endocrinology, Children’s University Hospital Vall Hebron, Barcelona, Spain
Autonomous University of Barcelona, Barcelona, Spain
Centre for Biomedical Research Network on Rare Diseases (CIBERER), Madrid, Spain

Search for other papers by M Clemente in
Google Scholar
PubMed
Close
,
L Castaño Centre for Biomedical Research Network on Rare Diseases (CIBERER), Madrid, Spain
Endocrinology and Diabetes Research Group, BioCruces Health Research Institute, UPV-EHU, CIBERDEM, Cruces University Hospital, Barakaldo, Spain

Search for other papers by L Castaño in
Google Scholar
PubMed
Close
,
A Moreno-Galdó Autonomous University of Barcelona, Barcelona, Spain
Centre for Biomedical Research Network on Rare Diseases (CIBERER), Madrid, Spain
Department of Pediatrics, Children’s University Hospital Vall Hebron, Barcelona, Spain

Search for other papers by A Moreno-Galdó in
Google Scholar
PubMed
Close
,
D Yeste Department of Pediatric Endocrinology, Children’s University Hospital Vall Hebron, Barcelona, Spain
Autonomous University of Barcelona, Barcelona, Spain
Centre for Biomedical Research Network on Rare Diseases (CIBERER), Madrid, Spain

Search for other papers by D Yeste in
Google Scholar
PubMed
Close
, and
A Carrascosa Department of Pediatric Endocrinology, Children’s University Hospital Vall Hebron, Barcelona, Spain
Autonomous University of Barcelona, Barcelona, Spain
Centre for Biomedical Research Network on Rare Diseases (CIBERER), Madrid, Spain

Search for other papers by A Carrascosa in
Google Scholar
PubMed
Close

primary hyperparathyroidism (PHPT). In most cases, it is isolated and the recommended treatment is surgery. On the other hand, familial hypocalciuric hypercalcemia (FHH) is generally considered a benign disease. It is caused by heterozygous mutation of

Open access
Katsuo Tao Department of Pediatrics, Fukui Aiiku Hospital, Fukui, Japan

Search for other papers by Katsuo Tao in
Google Scholar
PubMed
Close
,
Midori Awazu Department of Pediatrics, Keio University School of Medicine, shinjyuku, Tokyo, Japan

Search for other papers by Midori Awazu in
Google Scholar
PubMed
Close
,
Misa Honda Department of Pediatrics, Keio University School of Medicine, shinjyuku, Tokyo, Japan

Search for other papers by Misa Honda in
Google Scholar
PubMed
Close
,
Hironori Shibata Department of Pediatrics, Keio University School of Medicine, shinjyuku, Tokyo, Japan

Search for other papers by Hironori Shibata in
Google Scholar
PubMed
Close
,
Takayasu Mori Department of Nephrology, Tokyo Medical and Dental University, Fukui, Japan

Search for other papers by Takayasu Mori in
Google Scholar
PubMed
Close
,
Shinichi Uchida Department of Nephrology, Tokyo Medical and Dental University, Fukui, Japan

Search for other papers by Shinichi Uchida in
Google Scholar
PubMed
Close
,
Tomonobu Hasegawa Department of Pediatrics, Keio University School of Medicine, shinjyuku, Tokyo, Japan

Search for other papers by Tomonobu Hasegawa in
Google Scholar
PubMed
Close
, and
Tomohiro Ishii Department of Pediatrics, Keio University School of Medicine, shinjyuku, Tokyo, Japan

Search for other papers by Tomohiro Ishii in
Google Scholar
PubMed
Close

phosphate metabolism disorders specifically as neonatal hyperparathyroidism or familial hypocalciuric hypercalcemia (FHH). Treatment To correct electrolytes abnormalities, low phosphate formula, which had been started at 72 days, was changed to the

Open access
Satyanarayana V Sagi Department of Diabetes and Endocrinology, Peterborough City Hospital, Peterborough, UK

Search for other papers by Satyanarayana V Sagi in
Google Scholar
PubMed
Close
,
Hareesh Joshi Department of Diabetes and Endocrinology, Peterborough City Hospital, Peterborough, UK

Search for other papers by Hareesh Joshi in
Google Scholar
PubMed
Close
,
Jamie Trotman East Midlands and East of England NHS Genomic Laboratory Hub, Cambridge University Hospital NHS Foundation Trust, Cambridge Biomedical Campus, Cambridge, UK

Search for other papers by Jamie Trotman in
Google Scholar
PubMed
Close
,
Terence Elsey East Midlands and East of England NHS Genomic Laboratory Hub, Cambridge University Hospital NHS Foundation Trust, Cambridge Biomedical Campus, Cambridge, UK

Search for other papers by Terence Elsey in
Google Scholar
PubMed
Close
,
Ashwini Swamy Department of Diabetes and Endocrinology, Peterborough City Hospital, Peterborough, UK

Search for other papers by Ashwini Swamy in
Google Scholar
PubMed
Close
,
Jeyanthy Rajkanna Department of Diabetes and Endocrinology, Peterborough City Hospital, Peterborough, UK

Search for other papers by Jeyanthy Rajkanna in
Google Scholar
PubMed
Close
,
Nazir A Bhat Department of Ear, Nose and Throat, Peterborough City Hospital, Peterborough, UK

Search for other papers by Nazir A Bhat in
Google Scholar
PubMed
Close
,
Firas J S Haddadin Department of Diabetes and Endocrinology, Queen Elizabeth Hospital, King’s Lynn, UK

Search for other papers by Firas J S Haddadin in
Google Scholar
PubMed
Close
,
Samson O Oyibo Department of Diabetes and Endocrinology, Peterborough City Hospital, Peterborough, UK

Search for other papers by Samson O Oyibo in
Google Scholar
PubMed
Close
, and
Soo-Mi Park Department of Clinical Genetics, Cambridge University Hospital NHS Foundation Trust, Cambridge Biomedical Campus, Cambridge, UK

Search for other papers by Soo-Mi Park in
Google Scholar
PubMed
Close

-sensing receptor gene in a German subject with familial hypocalciuric hypercalcemia and primary hyperparathyroidism . Hormones 2016 15 557 – 559 . ( https://doi.org/10.14310/horm.2002.1711 ) 12 Kay S , Piltin M , Loseva V , Sinnot B , Brenna

Open access
Jane J Tellam Royal Brisbane and Women’s Hospital, Herston, Queensland, Australia
University of Queensland, Herston, Queensland, Australia

Search for other papers by Jane J Tellam in
Google Scholar
PubMed
Close
,
Ghusoon Abdulrasool Royal Brisbane and Women’s Hospital, Herston, Queensland, Australia
University of Queensland, Herston, Queensland, Australia
Pathology Queensland, Australia

Search for other papers by Ghusoon Abdulrasool in
Google Scholar
PubMed
Close
, and
Louise C H Ciin Gold Coast University Hospital, Southport, Queensland, Australia
Griffith University, Southport, Queensland, Australia

Search for other papers by Louise C H Ciin in
Google Scholar
PubMed
Close

-Hendili L Baron S Bertocchio JP Travers C Simian C Treard C Baudouin V Beltran S Broux F , Familial hypocalciuric hypercalcemia Types 1 and 3 and primary hyperparathyroidism: similarities and differences . Journal of Clinical

Open access
Marisa M Fisher Division of Pediatric Endocrinology, Department of Pediatrics, Riley Hospital for Children, Indiana University School of Medicine, 705 Riley Hospital Drive, Room 5960, Indianapolis, Indiana, 46220, USA

Search for other papers by Marisa M Fisher in
Google Scholar
PubMed
Close
,
Susanne M Cabrera Division of Pediatric Endocrinology, Department of Pediatrics, Medical College of Wisconsin, Children's Hospital of Wisconsin, 9000 W. Wisconsin Avenue, PO Box 1997, Milwaukee, Wisconsin, 53201, USA

Search for other papers by Susanne M Cabrera in
Google Scholar
PubMed
Close
, and
Erik A Imel Division of Pediatric Endocrinology, Department of Pediatrics, Riley Hospital for Children, Indiana University School of Medicine, 705 Riley Hospital Drive, Room 5960, Indianapolis, Indiana, 46220, USA
Division of Endocrinology, Department of Medicine, Indiana University School of Medicine, 541 North Clinical Drive, Indianapolis, Indiana, 46202, USA

Search for other papers by Erik A Imel in
Google Scholar
PubMed
Close

seen in familial hypocalciuric hypercalcemia (FHH). Homozygous CASR mutations result in neonatal severe hyperparathyroidism (NSHPT), producing life-threatening hypercalcemia and extreme PTH and alkaline phosphatase elevations in the neonatal period

Open access
Gabija Germanaitė Faculty of Medicine, Medical Academy, Lithuanian University of Health Sciences (LUHS), Kaunas, Lithuania

Search for other papers by Gabija Germanaitė in
Google Scholar
PubMed
Close
and
Diana Šimonienė Department of Endocrinology, Lithuanian University of Health Sciences (LUHS), Kaunas, Lithuania

Search for other papers by Diana Šimonienė in
Google Scholar
PubMed
Close

hypocalciuric hypercalcemia (FHH), calcium to creatinine clearance ratio (CCCR) was calculated, and it was higher than 0.01 meaning that FHH was unlikely in our patient. Additional analysis regarding Ca metabolism such as intact PTH, bone-specific ALP, cyclic

Open access
Benjamin Kwan University of Sydney, Sydney, New South Wales, Australia
Department of Endocrinology, Concord Repatriation General Hospital, Sydney, New South Wales, Australia

Search for other papers by Benjamin Kwan in
Google Scholar
PubMed
Close
,
Bernard Champion University of Sydney, Sydney, New South Wales, Australia
Department of Clinical Medicine, Macquarie University, Sydney, New South Wales, Australia

Search for other papers by Bernard Champion in
Google Scholar
PubMed
Close
,
Steven Boyages University of Sydney, Sydney, New South Wales, Australia
Department of Endocrinology, Westmead Hospital, Sydney, New South Wales, Australia

Search for other papers by Steven Boyages in
Google Scholar
PubMed
Close
,
Craig F Munns University of Sydney, Sydney, New South Wales, Australia
The Children’s Hospital at Westmead, Sydney, New South Wales, Australia

Search for other papers by Craig F Munns in
Google Scholar
PubMed
Close
,
Roderick Clifton-Bligh University of Sydney, Sydney, New South Wales, Australia
Cancer Genetics Laboratory, Kolling Institute, Royal North Shore Hospital, Sydney, New South Wales, Australia

Search for other papers by Roderick Clifton-Bligh in
Google Scholar
PubMed
Close
,
Catherine Luxford University of Sydney, Sydney, New South Wales, Australia
Cancer Genetics Laboratory, Kolling Institute, Royal North Shore Hospital, Sydney, New South Wales, Australia

Search for other papers by Catherine Luxford in
Google Scholar
PubMed
Close
, and
Bronwyn Crawford University of Sydney, Sydney, New South Wales, Australia
Department of Endocrinology, Concord Repatriation General Hospital, Sydney, New South Wales, Australia

Search for other papers by Bronwyn Crawford in
Google Scholar
PubMed
Close

db: calcium-sensing receptor locus-specific database for mutations causing familial (benign) hypocalciuric hypercalcemia, neonatal severe hyperparathyroidism, and autosomal dominant hypocalcemia . Human Mutation 2004 24 107 – 111 . ( https

Open access
Natassia Rodrigo Department of Diabetes and Endocrinology, Royal North Shore Hospital, Sydney, Australia
Northern Clinical School, Department of Medicine, University of Sydney, Australia
Kolling Institute of Medical Research, Royal North Shore Hospital, Sydney, Australia

Search for other papers by Natassia Rodrigo in
Google Scholar
PubMed
Close
,
Diana Learoyd Department of Diabetes and Endocrinology, Royal North Shore Hospital, Sydney, Australia
Northern Clinical School, Department of Medicine, University of Sydney, Australia
Kolling Institute of Medical Research, Royal North Shore Hospital, Sydney, Australia

Search for other papers by Diana Learoyd in
Google Scholar
PubMed
Close
, and
Sarah J Glastras Department of Diabetes and Endocrinology, Royal North Shore Hospital, Sydney, Australia
Northern Clinical School, Department of Medicine, University of Sydney, Australia
Kolling Institute of Medical Research, Royal North Shore Hospital, Sydney, Australia

Search for other papers by Sarah J Glastras in
Google Scholar
PubMed
Close

://doi.org/10.1007/s00268-010-0569-2 ) 6 Hendy GN D’Souza-Li L Yang B Canaff L Cole DE Mutations of the calcium-sensing receptor (CASR) in familial hypocalciuric hypercalcemia, neonatal severe hyperparathyroidism, and autosomal dominant hypocalcemia

Open access