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Hypocalciuria x

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Familial hypocalciuric hypercalcemia with a de novo heterozygous mutation of calcium-sensing receptor

Katsumi Taki

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

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Takahiko Kogai

Takahiko Kogai Department of Infection Control and Clinical Laboratory Medicine, Dokkyo Medical University, Tochigi, 321-0293, Japan

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Junko Sakumoto

Junko Sakumoto Department of Infection Control and Clinical Laboratory Medicine, Dokkyo Medical University, Tochigi, 321-0293, Japan

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Takashi Namatame

Takashi Namatame Clinical Research Center, Dokkyo Medical University, Tochigi, 321-0293, Japan

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Akira Hishinuma

Akira Hishinuma Department of Infection Control and Clinical Laboratory Medicine, Dokkyo Medical University, Tochigi, 321-0293, Japan

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; reference values 8.8–10.8), mild hypophosphatemia (serum phosphate 2.6 mg/dl; reference values 2.7–4.4), normal intact PTH levels (34 pg/ml; reference values 10–65), and relative hypocalciuria (fractional extraction of calcium (FECa) 1.07%). Serum

Taxonomy:: Clinical Overview, Gland/Organ, Parathyroid, Condition/ Syndrome, CASR gene mutation, Patient Demographics, Age, Adult, Gender, Female, Ethnicity, Asian - Japanese, Diagnosis and Treatment, Signs and Symptoms, Hypocalciuria, Investigation, Calcium (serum), Calcium (urine), Genetic analysis, Phosphate (serum), PTH, Radionuclide imaging, Sestamibi scan, Related Disciplines, Genetics, Publication Details, Case Report Type, Unique/unexpected symptoms or presentations of a disease

DOI:: https://doi.org/10.1530/EDM-15-0016

Volume/Issue:: Volume 2015: Issue 1

Open access

Think twice: a rare calcium sensing receptor mutation and a new diagnosis of familial hypocalciuric hypercalcaemia

Jane J Tellam

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

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Ghusoon Abdulrasool

Ghusoon Abdulrasool Royal Brisbane and Women’s Hospital, Herston, Queensland, Australia
University of Queensland, Herston, Queensland, Australia
Pathology Queensland, Australia

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Louise C H Ciin

Louise C H Ciin Gold Coast University Hospital, Southport, Queensland, Australia
Griffith University, Southport, Queensland, Australia

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investigation of his mother showed mild hypercalcaemia with relative hypocalciuria tested while vitamin D replete and inappropriately normal PTH. The calculated UCCR was 0.0053. These findings support the diagnosis of FHH in the mother of this patient and also

Taxonomy:: Clinical Overview, Gland/Organ, Parathyroid, Topic, Neuroendocrinology, Condition/ Syndrome, Familial hypocalciuric hypercalcaemia, Hypercalcaemia, Parathyroid adenoma, Parathroid hyperplasia, Patient Demographics, Age, Adult, Gender, Male, Ethnicity, White, Country of Treatment, Australia, Diagnosis and Treatment, Signs and Symptoms, Fatigue, Hypercalcaemia, Hypocalciuria, Palpitations, Investigation, Calcium (urine), Calcium to creatinine clearance ratio, DNA sequencing, Molecular genetic analysis, PTH, Sestamibi scan, Vitamin D, Intervention, Diet, Parathyroidectomy, Related Disciplines, Genetics, Publication Details, Case Report Type, Error in diagnosis/pitfalls and caveats

DOI:: https://doi.org/10.1530/EDM-20-0004

Volume/Issue:: Volume 2020: Issue 1

Open access

Identification of a novel large CASR deletion in a patient with familial hypocalciuric hypercalcemia

Alejandro García-Castaño

Alejandro García-Castaño Biocruces Bizkaia Health Research Institute, CIBERDEM, CIBERER, Barakaldo, Spain

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Leire Madariaga

Leire Madariaga Biocruces Bizkaia Health Research Institute, CIBERDEM, CIBERER, Barakaldo, Spain
Hospital Universitario Cruces, UPV/EHU, Barakaldo, Spain

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Sharona Azriel

Sharona Azriel Hospital Infanta Sofia, Madrid, Spain

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Gustavo Pérez de Nanclares

Gustavo Pérez de Nanclares Biocruces Bizkaia Health Research Institute, CIBERDEM, CIBERER, Barakaldo, Spain
Hospital Universitario Cruces, UPV/EHU, Barakaldo, Spain

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Idoia Martínez de LaPiscina

Idoia Martínez de LaPiscina Biocruces Bizkaia Health Research Institute, CIBERDEM, CIBERER, Barakaldo, Spain

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Rosa Martínez

Rosa Martínez Biocruces Bizkaia Health Research Institute, CIBERDEM, CIBERER, Barakaldo, Spain

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Inés Urrutia

Inés Urrutia Biocruces Bizkaia Health Research Institute, CIBERDEM, CIBERER, Barakaldo, Spain

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Aníbal Aguayo

Aníbal Aguayo Biocruces Bizkaia Health Research Institute, CIBERDEM, CIBERER, Barakaldo, Spain
Hospital Universitario Cruces, UPV/EHU, Barakaldo, Spain

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Sonia Gaztambide

Sonia Gaztambide Biocruces Bizkaia Health Research Institute, CIBERDEM, CIBERER, Barakaldo, Spain
Hospital Universitario Cruces, UPV/EHU, Barakaldo, Spain

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Luis Castaño

Luis Castaño Biocruces Bizkaia Health Research Institute, CIBERDEM, CIBERER, Barakaldo, Spain
Hospital Universitario Cruces, UPV/EHU, Barakaldo, Spain

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was to perform a clinical and genetic characterization of one patient suspected of familial hypocalciuric hypercalcemia. Patients with mutations of the CASR gene may not present such a classic picture of hypercalcemia with hypocalciuria or

Taxonomy:: Clinical Overview, Gland/Organ, Bone, Kidney, Parathyroid, Hormone, PTH, Condition/ Syndrome, Familial hypocalciuric hypercalcaemia, Patient Demographics, Age, Adult, Gender, Female, Ethnicity, Asian - Filipino, Country of Treatment, Spain, Diagnosis and Treatment, Signs and Symptoms, Hypercalcaemia, Hypocalciuria, Investigation, 25-hydroxyvitamin-D3, Calcium (serum), Calcium (urine), Creatinine (24-hour urine), Creatinine clearance, DNA sequencing, Molecular genetic analysis, Phosphate (serum), Polymerase Chain Reaction, PTH, Publication Details, Case Report Type, Insight into disease pathogenesis or mechanism of therapy

DOI:: https://doi.org/10.1530/EDM-18-0114

Volume/Issue:: Volume 2018: Issue 1

Open access

De novo HNF1 homeobox B mutation as a cause for chronic, treatment-resistant hypomagnesaemia

C E Stiles

C E Stiles Department of Endocrinology, William Harvey Research Institute, Barts and the London School of Medicine, Queen Mary University of London, London, UK

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R Thuraisingham

R Thuraisingham Department of Nephrology, Barts Health NHS Trust, London, UK

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D Bockenhauer

D Bockenhauer UCL centre for Nephrology and Great Ormond Street Hospital NHS Trust, London, UK

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L Platts

L Platts North East Thames Regional Genetics Laboratory, Great Ormond Street Hospital NHS Trust, London, UK

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A V Kumar

A V Kumar North East Thames Regional Genetics Service, Great Ormond Street Hospital NHS Trust, London, UK

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M Korbonits

M Korbonits Department of Endocrinology, William Harvey Research Institute, Barts and the London School of Medicine, Queen Mary University of London, London, UK

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magnesium (3.7 mmol/day, normal range: 3–5 mmol/day) was noted to be inappropriately normal in the context of low serum magnesium (0.46 mmol/L, normal range: 0.7–1 mmol/L) with hypocalciuria (24-h urinary calcium 0.8 mmol/day, normal range: 2.5–7.5 mmol

Taxonomy:: Clinical Overview, Gland/Organ, Kidney, Topic, Genetics and mutation, Hormone, PTH, Patient Demographics, Age, Adolescent/young adult, Gender, Female, Ethnicity, White, Country of Treatment, United Kingdom, Diagnosis and Treatment, Signs and Symptoms, Fatigue, Headache, Hypocalciuria, Hypomagnesaemia, Renal cyst, Uterus duplex, Investigation, Calcium (urine), CT scan, Estimated glomerular filtration rate, Magnesium, Molecular genetic analysis, PTH, Ultrasound scan, Medication, Magnesium glycerophosphate, Related Disciplines, Genetics, Publication Details, Case Report Type, Unique/unexpected symptoms or presentations of a disease

DOI:: https://doi.org/10.1530/EDM-17-0120

Volume/Issue:: Volume 2018: Issue 1

Open access

A case of hepatitis C-associated osteosclerosis: accelerated bone turnover controlled by pulse steroid therapy

Nobuhiro Miyamura

Nobuhiro Miyamura Departments of Diabetes and Endocrinology

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Shuhei Nishida

Shuhei Nishida Departments of Diabetes and Endocrinology

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Mina Itasaka

Mina Itasaka Departments of Diabetes and Endocrinology

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Hirofumi Matsuda

Hirofumi Matsuda Departments of Diabetes and Endocrinology

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Takeshi Ohtou

Takeshi Ohtou Gastroenterology

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Yasuhiro Yamaguchi

Yasuhiro Yamaguchi Neurology

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Daisuke Inaba

Daisuke Inaba Orthopedic Surgery, Tamana Central Hospital, Tamana, Japan

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Sadahiro Tamiya

Sadahiro Tamiya Department of General and Community Medicine, Kumamoto University Hospital, Kumamoto, Japan

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Tetsuo Nakano

Tetsuo Nakano Orthopedic Surgery, Tamana Central Hospital, Tamana, Japan

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. Investigation Laboratory data revealed low-normal serum calcium level with remarkable hypocalciuria, high levels of both intact-PTH and 1,25-dihydroxy vitamin D with low-normal level of 25-hydroxy vitamin D. Very high levels of both bone formation markers and

Taxonomy:: Clinical Overview, Gland/Organ, Bone, Topic, Bone, Condition/ Syndrome, Hepatitis C, Osteosclerosis, Patient Demographics, Age, Adult, Gender, Male, Ethnicity, Asian - Japanese, Diagnosis and Treatment, Signs and Symptoms, Bone pain, Hypocalciuria, Leg pain, Osteosclerosis, Investigation, Alanine aminotransferase, Alkaline phosphatase, Alkaline phosphatase (bone-specific), Bone biopsy, Bone mineral content, Bone mineral density, Bone scintigraphy, C1NP, Calcifediol, Calcitriol, Calcium (serum), Calcium to creatinine clearance ratio, Deoxypyridinoline, DEXA scan, IGF1, NTX, Osteocalcin, Parathyroid scintigraphy, PTH, Trabecular thickness, Transaminase, TRAP 5b, Ultrasound scan, Medication, Alphacalcidol, Antivirals, Bisphosphonates, Calcium carbonate, Calcium-L-aspartate, Corticosteroids, Glucocorticoids, Methylprednisolone, Prednisolone, Risedronate, Steroids, Publication Details, Case Report Type, Unique/unexpected symptoms or presentations of a disease

DOI:: https://doi.org/10.1530/EDM-16-0097

Volume/Issue:: Volume 2016: Issue 1

Open access

Continuous rhPTH (1–34) treatment in chronic hypoparathyroidism

Carmina Teresa Fuss

Carmina Teresa Fuss Division of Endocrinology and Diabetology, Department of Medicine I, University Hospital Würzburg, Würzburg, Germany

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Stephanie Burger-Stritt

Stephanie Burger-Stritt Division of Endocrinology and Diabetology, Department of Medicine I, University Hospital Würzburg, Würzburg, Germany

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Silke Horn

Silke Horn Division of Endocrinology and Diabetology, Department of Medicine I, University Hospital Würzburg, Würzburg, Germany

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Ann-Cathrin Koschker

Ann-Cathrin Koschker Division of Endocrinology and Diabetology, Department of Medicine I, University Hospital Würzburg, Würzburg, Germany

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Kathrin Frey

Kathrin Frey Division of Endocrinology and Diabetology, Department of Medicine I, University Hospital Würzburg, Würzburg, Germany

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Almuth Meyer

Almuth Meyer Division of Endocrinology and Diabetology, Department of Internal Medicine, Helios Klinikum Erfurt, Erfurt, Germany

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Stefanie Hahner

Stefanie Hahner Division of Endocrinology and Diabetology, Department of Medicine I, University Hospital Würzburg, Würzburg, Germany

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via a central-venous port-system and 100 000 IU cholecalciferol intramuscularly twice a week. Serum calcium levels of 1.5–1.7 mmol/L (reference range (RR): 2.2–2.7 mmol/L), hyperphosphatemia (1.77 mmol/L, RR: 0.8–1.3 mmol/L), hypocalciuria (1

Taxonomy:: Clinical Overview, Gland/Organ, Parathyroid, Topic, Mineral, Hormone, Calcitriol, PTH, Condition/ Syndrome, Hypercalcaemia, Hypocalcaemia, Hypoparathyroidism, Patient Demographics, Age, Adult, Gender, Female, Male, Ethnicity, White, Country of Treatment, Germany, Diagnosis and Treatment, Signs and Symptoms, Cramps, Epilepsy, Hypercalcaemia, Hypocalciuria, Hypoparathyroidism, Nausea, Nephrocalcinosis, Paraesthesia, Renal insufficiency, Sarcoidosis, Seizures, Tetany, Tremulousness, Vomiting, Investigation, 25-hydroxyvitamin-D3, Bone mineral density, Calcium (serum), Calcium (urine), Estimated glomerular filtration rate, Phosphate (serum), Ultrasound scan, Vitamin D, Medication, Calcitriol, Calcium, Calcium gluconate, Cholecalciferol, Glucocorticoids, Prednisolone, PTH, Publication Details, Case Report Type, Novel treatment

DOI:: https://doi.org/10.1530/EDM-20-0009

Volume/Issue:: Volume 2020: Issue 1

Open access

A novel CASR variant in a family with familial hypocalciuric hypercalcaemia and primary hyperparathyroidism

Satyanarayana V Sagi

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

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Hareesh Joshi

Hareesh Joshi Department of Diabetes and Endocrinology, Peterborough City Hospital, Peterborough, UK

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Jamie Trotman

Jamie Trotman East Midlands and East of England NHS Genomic Laboratory Hub, Cambridge University Hospital NHS Foundation Trust, Cambridge Biomedical Campus, Cambridge, UK

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Terence Elsey

Terence Elsey East Midlands and East of England NHS Genomic Laboratory Hub, Cambridge University Hospital NHS Foundation Trust, Cambridge Biomedical Campus, Cambridge, UK

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Ashwini Swamy

Ashwini Swamy Department of Diabetes and Endocrinology, Peterborough City Hospital, Peterborough, UK

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Jeyanthy Rajkanna

Jeyanthy Rajkanna Department of Diabetes and Endocrinology, Peterborough City Hospital, Peterborough, UK

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Nazir A Bhat

Nazir A Bhat Department of Ear, Nose and Throat, Peterborough City Hospital, Peterborough, UK

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Firas J S Haddadin

Firas J S Haddadin Department of Diabetes and Endocrinology, Queen Elizabeth Hospital, King’s Lynn, UK

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Samson O Oyibo

Samson O Oyibo Department of Diabetes and Endocrinology, Peterborough City Hospital, Peterborough, UK

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Soo-Mi Park

Soo-Mi Park Department of Clinical Genetics, Cambridge University Hospital NHS Foundation Trust, Cambridge Biomedical Campus, Cambridge, UK

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parathyroid hormone levels and inappropriate hypocalciuria. Although surgical intervention for the parathyroid over-activity may not resolve the hypercalcaemia completely, it will alleviate the symptoms and prevent potential complications of the hypercalcaemia

Taxonomy:: Clinical Overview, Gland/Organ, Parathyroid, Topic, Neuroendocrinology, Patient Demographics, Age, Adult, Gender, Female, Ethnicity, White, Country of Treatment, United Kingdom, Related Disciplines, Genetics, Publication Details, Case Report Type, New disease or syndrome: presentations/diagnosis/management

DOI:: https://doi.org/10.1530/EDM-20-0084

Volume/Issue:: Volume 2020: Issue 1

Open access

One in a billion: a patient with Marfan syndrome and familial hypocalciuric hypercalcaemia

Su Ann Tee

Su Ann Tee Department of Endocrinology, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle, UK

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Paul Brennan

Paul Brennan Departmentof Northern Genetics Service, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle, UK

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Anna L Mitchell

Anna L Mitchell Department of Endocrinology, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle, UK

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autosomal dominant disorder characterised by hypercalcaemia, hypocalciuria and relative hyperparathyroidism with normal or high plasma PTH levels, has an estimated incidence of between 1 in 10 000 and 1 in 100 000 ( 4 ). Although the majority of patients

Taxonomy:: Clinical Overview, Gland/Organ, Bone, Topic, Bone, Patient Demographics, Gender, Male, Ethnicity, White, Country of Treatment, United Kingdom, Related Disciplines, Genetics, Publication Details, Case Report Type, New disease or syndrome: presentations/diagnosis/management

DOI:: https://doi.org/10.1530/EDM-21-0024

Volume/Issue:: Volume 2021: Issue 1

Open access

A man with a worrying potassium deficiency

A Tabasum

A Tabasum Diabetes and Endocrinology, Cardiff and Vale NHS Trust, Penlan Road, Penarth, Cardiff CF64 2XX, UK

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C Shute

C Shute Diabetes and Endocrinology, Cardiff and Vale NHS Trust, Penlan Road, Penarth, Cardiff CF64 2XX, UK

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D Datta

D Datta Biochemistry, Cardiff and Vale NHS Trust, Penlan Road, Penarth, Cardiff CF64 2XX, UK

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L George

L George Diabetes and Endocrinology, Cardiff and Vale NHS Trust, Penlan Road, Penarth, Cardiff CF64 2XX, UK

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hypokalaemia, which had remained undiagnosed for many years. Biochemical analysis revealed hypokalaemic hypochloraemic metabolic alkalosis with hypomagnesaemia and hypocalciuria suggestive of GS. Molecular analysis revealed a mutation in the thiazide

Taxonomy:: Clinical Overview, Gland/Organ, Kidney, Topic, Adrenal, Condition/ Syndrome, Gitelman syndrome, Hypokalaemia, Patient Demographics, Age, Adult, Gender, Male, Ethnicity, White, Country of Treatment, United Kingdom, Diagnosis and Treatment, Signs and Symptoms, Chondrocalcinosis, Collapse, Hypomagnesaemia, Metabolic alkalosis, Myasthaenia, Palpitations, Short stature, Tetany, Investigation, Aldosterone to renin ratio, Bicarbonate, Chloride, Electrocardiogram, Genetic analysis, Magnesium, Potassium, Urinalysis, Medication, Magnesium glycerophosphate, Potassium chloride, Spironolactone, Related Disciplines, Genetics, Nephrology, Publication Details, Case Report Type, Unique/unexpected symptoms or presentations of a disease

DOI:: https://doi.org/10.1530/EDM-13-0067

Volume/Issue:: Volume 2014: Issue 1

Open access

An infant with congenital nephrogenic diabetes insipidus presenting with hypercalcemia and hyperphosphatemia

Katsuo Tao

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

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Midori Awazu

Midori Awazu Department of Pediatrics, Keio University School of Medicine, shinjyuku, Tokyo, Japan

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Misa Honda

Misa Honda Department of Pediatrics, Keio University School of Medicine, shinjyuku, Tokyo, Japan

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Hironori Shibata

Hironori Shibata Department of Pediatrics, Keio University School of Medicine, shinjyuku, Tokyo, Japan

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Takayasu Mori

Takayasu Mori Department of Nephrology, Tokyo Medical and Dental University, Fukui, Japan

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Shinichi Uchida

Shinichi Uchida Department of Nephrology, Tokyo Medical and Dental University, Fukui, Japan

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Tomonobu Hasegawa

Tomonobu Hasegawa Department of Pediatrics, Keio University School of Medicine, shinjyuku, Tokyo, Japan

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Tomohiro Ishii

Tomohiro Ishii Department of Pediatrics, Keio University School of Medicine, shinjyuku, Tokyo, Japan

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hyperparathyroidism ( 8 ). His angiotensin converting enzyme level was normal, however, and there were no signs of granulomatous disease. The level of 1,25(OH) 2 vitamin D and PTH normalized after the electrolytes abnormalities were corrected. Hypocalciuria, which