Search Our Scientific Publications & Authors

J Clin Med 2021 Oct 8;10(19). Epub 2021 Oct 8.

National Research Council (CNR), Institute of Clinical Physiology (IFC), 56124 Pisa, Italy.

The use of bone biopsy for histomorphometric analysis is a quantitative histological examination aimed at obtaining quantitative information on bone remodeling, structure and microarchitecture. The labeling with tetracycline before the procedure also allows for a dynamic analysis of the osteoblastic activity and mineralization process. In the nephrological setting, bone biopsy is indicated to confirm the diagnosis of subclinical or focal osteomalacia and to characterize the different forms of renal osteodystrophy (ROD). Read More

Calcif Tissue Int 2022 02 3;110(2):215-224. Epub 2021 Sep 3.

Nephrology Department, Hospital Curry Cabral|CHULC, Rua da Beneficência nº8, 1050-099, Lisbon, Portugal.

Chronic kidney disease-mineral and bone disorder has been associated with increasing morbid-mortality. The aim of this study was to determine the prevalence and phenotype of bone disease before transplantation and to correlate FGF23 and sclerostin levels with bone histomorphometry, and study possible associations between FGF23, sclerostin, and bone histomorphometry with cardiovascular disease and mortality. We performed a cross-sectional cohort study of a sample of 84 patients submitted to renal transplant, which were prospectively followed for 12 months. Read More

Nutrients 2021 Jun 16;13(6). Epub 2021 Jun 16.

Department of Nephrology, Hypertension and Family Medicine, Medical University of Lodz, 90-549 Lodz, Poland.

Chronic kidney disease is a health problem whose prevalence is increasing worldwide. The kidney plays an important role in the metabolism of minerals and bone health and therefore, even at the early stages of CKD, disturbances in bone metabolism are observed. In the course of CKD, various bone turnover or mineralization disturbances can develop including adynamic hyperparathyroid, mixed renal bone disease, osteomalacia. Read More

Am J Kidney Dis 2021 10 25;78(4):582-589. Epub 2021 Mar 25.

University of Colorado Health Sciences Center, Denver, Colorado; Colorado Center for Bone Health, Lakewood, Colorado.

Osteoporosis is defined as a skeletal disorder of compromised bone strength predisposing those affected to an elevated risk of fracture. However, based on bone histology, osteoporosis is only part of a spectrum of skeletal complications that includes osteomalacia and the various forms of renal osteodystrophy of chronic kidney disease-mineral and bone disorder (CKD-MBD). In addition, the label "kidney-induced osteoporosis" has been proposed, even though the changes caused by CKD do not qualify as osteoporosis by the histological diagnosis. Read More

J Bras Nefrol 2020 Jan;42(2):138-146

Universidade Estadual de Campinas, Faculdade de Ciências Médicas, Laboratório para o Estudo do Distúrbio Mineral e Ósseo em Nefrologia, Campinas, SP, Brasil.

Introduction: Mineral and bone disorders (MBD) are major complications of chronic kidney disease (CKD)-related adverse outcomes. The Brazilian Registry of Bone Biopsy (REBRABO) is an electronic database that includes renal osteodystrophy (RO) data. We aimed to describe the epidemiological profile of RO in a sample of CKD-MBD Brazilian patients and understand its relationship with outcomes. Read More

Medicine (Baltimore) 2020 Jun;99(25):e20724

Division of Nephrology, First Department of Integrated Medicine, Saitama Medical Center, Jichi Medical University.

Introduction: The use of warfarin in patients undergoing hemodialysis is associated with decreased bone mineral density and an increased incidence of bone fracture. However, no studies to date have directly estimated bone quality with bone histomorphometry in patients with bone abnormalities who are taking warfarin and undergoing hemodialysis.

Patient Concerns: A 47-year-old female with Noonan syndrome presented with progressive bilateral lower extremity pain on walking, and skin sclerosis. Read More

Bone 2020 09 30;138:115460. Epub 2020 May 30.

INSERM U1059 and University Hospital, Saint-Etienne, France; Université de Lyon, Lyon, France. Electronic address:

Background And Objectives: Histomorphometric analysis of a transiliac bone biopsy is the gold standard for the diagnosis of renal osteodystrophy (ROD). This procedure is costly, invasive and usually performed with a trephine with an internal diameter of 7.5 mm. Read More

Clin Kidney J 2020 Oct 26;13(5):897-899. Epub 2019 Jun 26.

INSERM U1132, Lariboisière Hospital, University of Paris-Diderot, Paris, France.

A haemodialysis patient with periprosthetic fractures and a history of corticosteroid use was referred for assessment for bone mineral disorders. Mixed renal osteodystrophy was diagnosed following a bone biopsy. Correction for vitamin D insufficiency did not improve the clinical signs, which prompted a potential diagnosis of hypophosphataemic osteomalacia to be considered. Read More

J Inherit Metab Dis 2019 09 5;42(5):1019-1029. Epub 2019 Aug 5.

Pediatric Clinic, Wildermeth Children's Hospital, Biel-Bienne, Switzerland.

Cystinosis is an autosomal recessive storage disease due to impaired transport of cystine out of lysosomes. Since the accumulation of intracellular cystine affects all organs and tissues, the management of cystinosis requires a specialized multidisciplinary team consisting of pediatricians, nephrologists, nutritionists, ophthalmologists, endocrinologists, neurologists' geneticists, and orthopedic surgeons. Treatment with cysteamine can delay or prevent most clinical manifestations of cystinosis, except the renal Fanconi syndrome. Read More

Intern Med J 2018 Dec;48(12):1435-1446

Department of Endocrinology and Diabetes, St Vincent's Hospital Melbourne, Melbourne, Victoria, Australia.

The metabolic abnormalities affecting bone in the setting of chronic kidney disease (CKD) are complex with overlapping and interacting aetiologies and have challenging diagnostic and management strategies. Disturbances in calcium, phosphate, fibroblast growth factor 23, parathyroid hormone concentrations and vitamin D deficiency are commonly encountered and contribute to the clinical syndromes of bone disorders in CKD, including hyperparathyroidism, osteomalacia, osteoporosis and adynamic bone disease. Mineral and bone abnormalities may also persist or arise de novo post-renal transplantation. Read More

Clin Calcium 2018;28(8):1045-1050

Saiyu Clinic, Koshigaya, Japan.

In the 1970s, severe osteoarticular lesion appeared to the patients from a relatively early stage after initiation of dialysis. It was recognized as dialysis osteodystrophy and was an important threat of the patients. The main causes of the lesion were osteitis fibrosa due to secondary hyperparathyroidism and osteomalacia including an aluminum bone disease. Read More

Bone Rep 2018 Jun 17;8:125-134. Epub 2018 Mar 17.

Bone & Mineral Research Laboratory, Henry Ford Health System, Detroit, MI, 48201, United States.

With the widespread use of measurement of bone mineral density to detect, diagnose, and monitor therapy in the management of osteoporosis, bone histomorphometry has largely been relegated to research settings and academic pursuits. However, bone density measurement cannot distinguish between osteoporosis and other metabolic bone disorders such as different types of osteomalacia, osteitis fibrosa, renal osteodystrophy, hypophosphatasia, and Paget's disease of bone. Furthermore, bone density test cannot tell us anything about microarchitecture of bone, tissue level dynamics, bone cellular activity, bone mineralization and bone remodeling, understanding of which is essential to make a specific diagnosis of a suspected metabolic bone disease, to evaluate beneficial (or adverse) effects of various therapies, treatment (medical or surgical) decisions in hyperparathyroid states. Read More

Int J Mol Med 2018 Sep 13;42(3):1603-1614. Epub 2018 Jun 13.

Metabolic Bone Disease and Genetic Research Unit, Department of Osteoporosis and Bone Diseases, Shanghai Key Clinical Center for Metabolic Disease, Shanghai Jiao Tong University Affiliated Sixth People's Hospital, Shanghai 200233, P.R. China.

Hypophosphatemic rickets/osteomalacia is characterized by defective renal phosphate reabsorption and abnormal bone mineralization. Hypophosphatemic rickets/osteomalacia consists of inherited and acquired forms, many of which have unknown aetiology. In the present study, next‑generation sequencing‑based resequencing was used on samples from Chinese subjects with hypophosphatemic rickets/osteomalacia, aiming to detect the spectrum of pathogenic genes in these patients. Read More

Front Endocrinol (Lausanne) 2018 20;9:48. Epub 2018 Feb 20.

Department of Molecular Endocrinology, Fujii Memorial Institute of Medical Sciences, Institute of Advanced Medical Sciences, Tokushima University, Tokushima, Japan.

Fibroblast growth factor 23 (FGF23) is a phosphotropic hormone mainly produced by bone. FGF23 reduces serum phosphate by suppressing intestinal phosphate absorption through reducing 1,25-dihydroxyvitamin D and proximal tubular phosphate reabsorption. Excessive actions of FG23 result in several kinds of hypophosphatemic rickets/osteomalacia including X-linked hypophosphatemic rickets (XLH) and tumor-induced osteomalacia. Read More

G Ital Nefrol 2017 Dec 5;34(Nov-Dec). Epub 2017 Dec 5.

Department of Medicine, Section of Internal Medicine D, University of Verona, Italy.

Histomorphometry or quantitative histology is the analysis on histologic sections of bone resorption, formation and structure parameters. It is the only technique allowing a dynamic evaluation of osteoblast activity after labelling with tetracycline. In addition, the use of computed image analyzer allows the possibility to assess bone microarchitecture. Read More

Endocrinol Metab Clin North Am 2017 12 29;46(4):983-1007. Epub 2017 Sep 29.

Division of Nephrology and Hypertension, Department of Medicine, Mayo Clinic, 200 First Street SW, Rochester, MN 55901, USA; Department of Biochemistry and Molecular Biology, Mayo Clinic, 200 First Street SW, Rochester, MN 55901, USA. Electronic address:

Chronic kidney disease (CKD) and end-stage renal disease (ESRD) are associated with abnormalities in bone and mineral metabolism, known as CKD-bone mineral disorder. CKD and ESRD cause skeletal abnormalities characterized by hyperparathyroidism, mixed uremic osteodystrophy, osteomalacia, adynamic bone disease, and frequently enhanced vascular and ectopic calcification. Hyperparathyroidism and mixed uremic osteodystrophy are the most common manifestations due to phosphate retention, reduced concentrations of 1,25-dihydroxyvitamin D, intestinal calcium absorption, and negative calcium balance. Read More

Adv Clin Chem 2017;82:1-46. Epub 2017 Aug 7.

David Geffen School of Medicine, University of California, Los Angeles, CA, United States. Electronic address:

Calcium and inorganic phosphate are of critical importance for many body functions, thus the regulations of their plasma concentrations are tightly controlled by the concerted actions of reabsorption/excretion in the kidney, absorption in the intestines, and exchange from bone, the major reservoir for calcium and phosphate in the body. Parathyroid hormone (PTH) and 1,25-dihydroxyvitamin D (1,25(OH)D) control calcium homeostasis, whereas PTH, 1,25(OH)D, and bone-derived fibroblast growth factor 23 (FGF 23) control phosphate homeostasis. Hypoparathyroidism can cause hypocalcemia and hyperphosphatemia, whereas deficient vitamin D actions can cause osteomalacia in adults and rickets in children. Read More

Med Arch 2017 Apr;71(2):151-153

Department of Orthopedics and Traumatology, General hospital Niksic, Montenegro.

Introduction: Subcapital femoral neck fractures are associated with high morbidity and mortality. These fractures mostly occur as a result of a high-force impact from traffic accidents and a fall from a great height, though non-traumatic forms are described in transient osteoporosis during the second half of pregnancy, in convulsions during electric shock, eclampsia, hypocalcemia, osteomalacia, renal osteodystrophy and myeloma.

Case Report: In this report we present a bilateral subcapital femoral neck fracture in a woman sustained two days after delivery. Read More

Am J Kidney Dis 2017 Sep 9;70(3):445-448. Epub 2017 May 9.

Department of Pediatrics, David Geffen School of Medicine at UCLA, Los Angeles, CA.

Bone deformities and fractures are common consequences of renal osteodystrophy in the dialysis population. Persistent hypophosphatemia may be observed with more frequent home hemodialysis regimens, but the specific effects on the skeleton are unknown. We present a patient with end-stage renal disease treated with frequent home hemodialysis who developed severe bone pain and multiple fractures, including a hip fracture and a tibia-fibula fracture complicated by nonunion, rendering her nonambulatory and wheelchair bound for more than a year. Read More

Semin Dial 2017 07 5;30(4):361-368. Epub 2017 Apr 5.

Department of Medicine, NorthShore University HealthSystem, University of Chicago Pritzker School of Medicine, Chicago, Illinois.

Musculoskeletal manifestations in chronic kidney disease (CKD) are the result of a series of complex alterations in mineral metabolism, which has been defined as chronic kidney disease - mineral and bone-related disorder (CKD-MBD). Biochemical assessment and, at times, bone biopsy remains the mainstay of disease assessment, however, radiological imaging is an important adjunct in evaluating disease severity. This review aims to illustrate the radiological features of CKD-MBD, such as secondary hyperparathyroidism, osteomalacia, adynamic bone disease, osteopenia, and extra-skeletal calcifications. Read More

Int J Surg Case Rep 2016 17;28:321-324. Epub 2016 Oct 17.

Department of Orthopaedics and Traumatology, Faculty of Medicine, Erciyes University, Kayseri, Turkey.

Introduction: Simultaneous bilateral femoral neck fracture is an uncommon condition. There are very few cases reported in the literature and most of these cases have underlying bone pathologies such as renal osteodystrophy and osteomalacia. In some cases bilateral femoral neck fractures occur due to generalized seizures or high-energy trauma. Read More

Radiographics 2016 Oct;36(6):1871-1887

From the Division of Musculoskeletal Imaging and Intervention, Department of Radiology (C.Y.C., D.I.R., S.V.K., A.J.H.), and the Pediatric Endocrine Division, Department of Pediatrics (D.M.M.), Massachusetts General Hospital, 55 Fruit St, Yawkey 6E, Boston, MA 02114; and the Department of Radiology, St. Luke's International Hospital, Tokyo, Japan (A.H.).

Metabolic bone diseases are a diverse group of diseases that result in abnormalities of (a) bone mass, (b) structure mineral homeostasis, (c) bone turnover, or (d) growth. Osteoporosis, the most common metabolic bone disease, results in generalized loss of bone mass and deterioration in the bone microarchitecture. Impaired chondrocyte development and failure to mineralize growth plate cartilage in rickets lead to widened growth plates and frayed metaphyses at sites of greatest growth. Read More

J Clin Transl Endocrinol 2016 Sep 25;5:32-35. Epub 2016 Jul 25.

Division of Endocrinology, Diabetes, and Metabolism, University of Massachusetts, 55 Lake Avenue North, Worcester, MA 01655, USA.

The Kidney Disease: Improving Global Outcomes (KDIGO) work group released recommendations in 2006 to define the bone-related pathology associated with chronic kidney disease as renal osteodystrophy. In 2009, KDIGO released revised clinical practice guidelines which redefined systemic disorders of bone and mineral metabolism due to chronic kidney disease as chronic kidney disease-mineral and bone disorders. Conditions under this overarching term include osteitis fibrosa cystica, osteomalacia, and adynamic bone disease. Read More

Clin Nephrol 2016 Mar;85(3):127-34

Aims: The aim of this study was to evaluate the associations between bone histomorphometry and bone volume measured by dual-energy X-ray absorptiometry (DXA) in wait-listed dialysis patients. Further, the circulating markers of mineral metabolism and bone turnover were compared.

Material And Methods: Bone biopsies were performed on 61 wait-listed dialysis patients. Read More

Clin J Am Soc Nephrol 2016 Mar 28;11(3):481-7. Epub 2015 Dec 28.

Department of Pediatrics, David Geffen School of Medicine at the University of California, Los Angeles, Los Angeles, California; and

Background And Objectives: Computed tomography (CT) measurements can distinguish between cortical and trabecular bone density in vivo. High-resolution CTs assess both bone volume and density in the same compartment, thus potentially yielding information regarding bone mineralization as well. The relationship between bone histomorphometric parameters of skeletal mineralization and bone density from microcomputed tomography (μCT) measurements of bone cores from patients on dialysis has not been assessed. Read More

BMC Nephrol 2015 Nov 11;16:187. Epub 2015 Nov 11.

Department of Internal Medicine, Keio University School of Medicine, 35 Shinanomachi, Shinjuku-ku, Tokyo, 160-8582, Japan.

Background: Primary biliary cirrhosis (PBC) is an immune-mediated chronic cholestatic liver disease, characterized by increased concentrations of serum IgM and the presence of circulating anti-mitochondrial antibodies. Although bone diseases such as osteoporosis or osteodystrophy are commonly associated with PBC, osteomalacia which is caused by abnormal vitamin D metabolism, mineralization defects, and phosphate deficiency has not been recognized as a complication of PBC.

Case Presentation: We report the case of a 49-year-old Japanese woman who complained of multiple fractures. Read More

Endocr Dev 2015 12;28:119-133. Epub 2015 Jun 12.

Rickets is a condition in which there is failure of the normal mineralisation (osteomalacia) of growing bone. Whilst osteomalacia may be present in adults, rickets cannot occur. It is generally caused by a lack of mineral supply, which can either occur as a result of the deficiency of calcium (calciopaenic rickets, now known as parathyroid hormone-dependent rickets) or of phosphate (phosphopaenic rickets, now called FGF23-dependent rickets). Read More

Pediatr Transplant 2015 Mar 17;19(2):E33-6. Epub 2014 Dec 17.

Pediatric Nephrology and Dialysis Unit, Children's Hospital Giovanni XXIII, Bari, Italy.

Uremic osteodystrophy is an expected complication in subjects with chronic renal insufficiency. It develops gradually and progressively already during the conservative treatment and then during the dialysis treatment. It can present a wide histopathological spectrum including typical alterations (from osteitis fibrosa to osteomalacia and/or mixed lesions) or, more rarely, isolated bone lesions indicative of a brown tumor of the bone. Read More

Head Neck Pathol 2014 Dec 20;8(4):475-81. Epub 2014 Nov 20.

Pathology, School of Oral Health Sciences, Medunsa Campus, University of Limpopo, Pretoria, 0204, South Africa,

Metabolic bone diseases often are asymptomatic and progress sub clinically. Many patients present at a late stage with catastrophic skeletal and extra skeletal complications. In this article, we provide an overview of normal bone remodeling and a synopsis of recent developments in the following conditions: osteoporosis, rickets/osteomalacia, endocrine-induced bone disease, chronic kidney disease-mineral bone disorder and Paget's disease of bone. Read More