Diagnosis Of Osteomalacia Research Articles

Frequency of Osteomalacia and Vitamin D Deficiency in Elderly Patient Presenting at a Tertiary Care Hospital

Introduction: Vitamin D deficiency leads to the bone hypomineralization condition known as osteomalacia in peoples and is linked to other non-skeletal diseases. Objectives: To determine the frequency of osteomalacia and vitamin d deficiency in elderly patient presenting at a tertiary care hospital. Study Design: Cross sectional study Settings: Department of Diabetes and endocrinology Hayatabad medical complex Peshawar Materials & Methods: Total 140 patients aged 50 years and above presenting with body pain and weakness who required medical treatment at hospital for various health concerns. Patients with known metabolic bone disorders other than osteomalacia, patients receiving vitamin D supplementation or specific treatments for bone disorders were excluded. Participants underwent a thorough clinical assessment, including medical history review, physical examination, and assessment of musculoskeletal symptoms associated with osteomalacia. Blood samples were collected to measure serum levels of 25-hydroxyvitamin D [25(OH)D], the biomarker for vitamin D status. Additional biochemical markers, such as alkaline phosphatase and parathyroid hormone levels, were also assessed to aid in the diagnosis of osteomalacia. Collected data of study variables were analyzed using statistical software (SPSS version 25). Results: Regarding gender, a total of 60 patients were male, constituting 42.85% of the population, while 80 patients were female, representing 57.14%. Musculoskeletal pain was reported in 80 individuals, representing 57.1% of the population. Proximal muscle weakness was observed in 50 patients, accounting for 35.7%. Additionally, 40 patients (28.6%) had a history of fractures. Vitamin D deficiency was identified in 68(48.57%), while osteomalacia was in 11(7.85%) patients. Practical Implication: Understanding the interplay between thyroid disorders and bone health can guide more comprehensive management strategies in this vulnerable population at tertiary care hospitals. Conclusion: In conclusion, our study reveals a relatively high prevalence of biochemical osteomalacia 7.85% among Pakistani old age patients challenging previous estimates in other populations Keywords: Association, Bone Hypomineralization, Non-skeletal Disorders, Osteomalacia, Vitamin D Deficienc

Ethmoid glomangioma and oncogenic osteomalacia: a case report

BackgroundGlomangioma is a benign tumor of mesenchymal origin, derived from the glomus body. It is responsible for the thermal regulation of the dermis. The occurrence of oncogenic osteomalacia related to glomangioma is rare. Only two cases have been reported thus far.Case presentationA 32-year-old female, Brazilian, presented diffuse pain, during pregnancy, that developed progressively, limiting her mobility. Imaging showed a femoral neck fracture, and rheumatological laboratory examination showed hypophosphatemia. Also, the patient reported episodes of epistaxis during childhood and recurrence along with progressively right nasal obstruction. Endoscopic resection of the tumor was performed, and immunohistochemistry was conclusive for glomangioma. This case report describes the third case in which endonasal endoscopic surgery resulted in a favorable outcome.ConclusionThis case of glomangioma-induced oncogenic osteomalacia suggests that surgeons and clinicians should consider sinonasal tumors as a differential diagnosis of osteomalacia, and endonasal endoscopic surgery should be a possible curative resection.

Response of Severe Osteomalacia to High Dose Vitamin D3 Replacement in a Patient With Ulcerative Colitis and Liver Transplantation on Immunosuppressive Therapy

Background: Bone disease is common in inflammatory bowel disease (IBD), more frequently in Crohn’s disease than ulcerative colitis (UC). We present the case of a patient with prior history of ulcerative colitis with severe 25 OH vitamin D deficiency and metabolic bone disease. Case: 67 year old male with h/o ulcerative colitis, colon cancer s/p proctocolectomy and ileostomy, chemo-radiation, h/o primary sclerosing cholangitis (PSC) and orthotopic liver transplantation (OLT) 20 years prior presented with presented with severe muscle aches, severe limitation in mobility and severe vitamin D deficiency. He had been on chronic prednisone and tacrolimus, mycophenolate. Three years after OLT, he had fragility fractures at different times in both hips requiring hip arthroplasty. Labs were significant for persistently elevated alkaline phosphatase (ALP) up to 1569 U/L for last 10 years, bone specific ALP at 423.6 mcg/L, Calcium 9 mg/dl, phosphorus 2 mg/dl, 25 OH vitamin D was 4 ng/ml, 1, 25-hydroxy vitamin D (25-OHD) was 34 ng/ml, PTH was 189 pg/ml, urine calcium/creatinine ratio was 50 mg/g and urine NTX at 223 nM BCE/mM. Celiac screen was negative and tacrolimus levels were within normal range. Patient had extensive workup by gastroenterology for elevated ALP including three liver biopsies which were unrevealing. A bone scan showed increased uptake in thoracic region and metaphyses of large joints. A diagnosis of osteomalacia and secondary hyperparathyroidism was made and he was started on high dose vitamin D gradually increased to 8000 units thrice a day. Within few weeks, he noted marked improvement in mobility, bone pain and need for pain medications. In few months, BSAP decreased to 144.9 mcg/l, NTX and PTH also improved. 25 OH has also increased slightly to 13. He continues on high dose vitamin D and 1200mg of calcium daily. Discussion: Our patient likely had severe osteomalacia due to prolonged vitamin D deficiency, caused by multiple etiologies. Firstly, poor absorption in UC might lower 25-OHD levels. Secondly CYP3A enzymes are involved in the metabolism of calcineurin inhibitor tacrolimus as well as vitamin D, this could result in enhanced vitamin D metabolism, which would explain persistently low vitamin D level despite replacement with such high doses. The significant improvement in his symptoms with supplementation resulting in increased mobility despite not having a normal vitamin D level suggest other pleiotropic effects of vitamin D on muscle and bone as well. Additionally effects of liver transplantation on vitamin D metabolism need to be explored further.

Profile of 25-Hydroxyvitamin D in Individuals Attending Armed Forces Institute of Pathology (AFIP), Dhaka

Background: In the last two decades, there has been increasing interest in the biology of vitamin D and a growing recognition is that vitamin D deficiency is common in tropical countries despite having ample sunshine. Myth of ‘routine exposure to sunshine does not require extra vitamin D’ results in severe asymptomatic vitamin D deficiency. Several factors like socio-economic condition, dietary insufficiency, inadequate exposure to sunlight due to use of sun-screen, clothes, environmental pollution, skin pigmentation may contribute to vitamin D deficiency.Objective: The study was designed to evaluate the vitamin D status of patients of different age groups reporting to Armed Forces Institute of Pathology (AFIP), Dhaka.Materials and Methods: This crosssectional, observational study was conducted from October 2015 to March 2017, using serum 25-hydroxyvitamin D (25-OHD) levels to classify patients of different age groups into deficient, insufficient and sufficient categories. Individuals up to 70 years of age of all religions, genders and occupations who gave blood specimens at AFIP were included in the study. Patients with chronic renal failure, primary hyperparathyroidism, on vitamin D supplementation with established diagnosis of osteomalacia and rickets, taking phenytoin or glucocorticoids were excluded. Total 25-OH vitamin D level in serum was estimated by electro-chemiluminescence on Cobas Elecsys e411 fully automated system on the day of collection. This method has been standardized against LC-MS/MS which in turn has been standardized to the NIST (National Institute of Standards and Technology, USA). The functional sensitivity was determined to be 4.01 ng/mL (CV 18.5%). Vitamin D deficiency is defined as 25(OH) D <50 nmol/L, insufficiency as 50–75 nmol/L and sufficiency as ≥75 nmol/L and toxicity >375 nmol/L. The definition of vitamin D status was based on the recommendation of the US Institute of Medicine (IOM) for vitamin D.Results: A total of 2867 specimens were enrolled in the study, comprising 1949 (67.98%) female and 918 (32.02%) male. Maximum number (1270) was in the age range of 41−60 years. According to vitamin D status 1640 (57.20%) out of 2867 were found deficient, among which female were 1175 (71.65%) and male 465 (28.35%) with 1:2.5 male and female ratio. There were 255 male (37.83%) and 419 (62.17%) female in the insufficient group with 1:1.64 male-female ratio. Lowest value of <7.5 nmol/L was found in 36 subjects where 80.55% were female. Female were also found to be predominant (62.75%) in highest concentration of vitamin D (>175 nmol/L). Female in all age groups predominated in both deficiency and insufficiency groups. No toxic values were found in any age group among male or female.Conclusion: Vitamin D deficiency is pandemic; it has been assumed that one billion people worldwide have vitamin D deficiency or insufficiency. Laboratory professionals are confronted with substantial increase in laboratory testing due to growing clinical interest in vitamin D status. At the same time avoidance of overscreening of vitamin D by physicians should also be considered.J Enam Med Col 2018; 8(1): 35-40

Osteomalacia and vitamin D deficiency

Vitamin D and calcium deficiency has a higher incidence in the orthopedic-trauma surgery patient population than generally supposed. In the long term this can result in osteomalacia, a form of altered bone mineralization in adults, in which the cartilaginous, non-calcified osteoid does not mature to hard bone. The current value of vitamin D and its importance for bones and other body cells are demonstrated. The causes of vitamin D deficiency are insufficient sunlight exposure, a lack of vitamin D3 and calcium, malabsorption, and rare alterations of VDR signaling and phosphate metabolism. The main symptoms are bone pain, fatigue fractures, muscular cramps, muscle pain, and gait disorders, with an increased incidence of falls in the elderly. Osteopathies induced by pharmaceuticals, tumors, rheumatism or osteoporosis have to be considered as the main differential diagnoses. In addition to the recording of symptoms and medical imaging, the diagnosis of osteomalacia should be ensured by laboratory parameters. Adequate treatment consists of the high-dose intake of vitamin D3 and the replacement of phosphate if deficient. Vitamin D is one of the important hormone-like vitamins and is required in all human cells. Deficiency of vitamin D has far-reaching consequences not only for bone, but also for other organ systems.

VITAMIN D IN MENOPAUSE: A CROSS-SECTIONAL STUDY ON 471 WOMEN

Introduction. Vitamin D is intensively studied during the last years. The most useful instrument to assess the vitamin D status is serum 25-hydroxy vitamin D (25-OH D). Material and method. This is a cross sectional study in menopausal women, between 2008 and 2013 with inclusion criteria: at least 1 year since menopause, age between 40 and 80 years; exclusion criteria: specific therapy for osteoporosis, previous diagnosis of osteomalacia and rickets, primary hyperparathyroidism. Results. 471 subjects were: group 1 with osteopenia and osteoporosis (N = 328) and group 2 with normal DXA (N = 143) which were statistically significant (SS) different regarding the age, body mass index (BMI), years since menopause, bone markers osteocalcin and CrossLaps, with no SS differences between 25-OH D. In group 1: the linear regression coefficient (r) between alkaline phosphatase and 25-OH D was -0.14 (p = 0.01). In group 2: the BMI distribution showed: normal weighted subjects (BMI ≤ 24.9 kg/m2, N = 22, 15%, av. 25-OH D = 19.69 ng/mL), overweighed females (BMI = 25-29.9 kg/m2, N = 56, 39%, av. 25-OH D = 15.11 ng/mL ), obese (BMI ≥ 30 kg/m2, N = 65, 46%, av. 25-OH D = 12.11 ng/mL), with SS differences between any 2 subgroups. 25-OH D is not SS different between the subgroups based on decades of years since menopause, regardless the DXA score. Conclusion. Based on our observations, a prevalent low level of vitamin D is registered in menopausal women regardless they have or not osteoporosis and in women with normal DXA the vitamin D level is lower in obsesses versus normal or overweighed patients.

Osteomalacia or Osteoporosis - Case Report / Osteomalacija Ili Osteoporoza - Prikaz Slučaja

Summary The aim of the paper was to show the diagnostic and therapeutic approaches to a patient suffering from osteomalacia, as well as differential diagnosis with osteoporosis. Osteomalacia (OM) is a metabolic disease of bones which appears as a result of defective mineralization of newly formed bone matrix in adults. Diagnosis of disease may represent a big problem. A 67-year-old female patient from Pirot was examined in an outpatient unit by a rheumatologist in the Niška Banja Institute in December 2012. The patient reported pain along the vertebral column and inability to get out of bed. Radiography showed vertebral compression fractures and the patient had previously received surgical care at Orthopedics Ward of General Hospital Pirot due to the left femur fracture. Orthopedist, neurologist, physiatrist and practicing rheumatologist suspected osteoporosis. The diagnosis of osteomalacia was established in February, 2013. The treatment was initiated by introducing large doses of vitamin D and advising bisphosphonates. After eighth months, the patient's general condition was improved. This was demonstrated by her independent mobility.

Validation of the Clinical, Radiological, Biochemical Parameters of Osteomalacia

Background: Osteomalacia, a metabolic bone disorder characterized by softening of the bones caused by defective bone mineralization secondary to inadequate amounts of available phosphorus and calcium, or because of overactive resorption of calcium from the bone as a result of hyperparathyroidism. The diagnosis of Osteomalacia is dependent on clinical, radiographic and biochemical parameters still, none of these are pathognomonic of the disorder, and histologic examination of a bone biopsy, an invasive procedure is usually necessary to confirm the diagnosis. We used diagnostic criteria based on clinical, biochemical and radiological parameters to diagnose Osteomalacia with adequate accuracy. Methodology: This was Cross sectional and observational study. A total of 100 patients age between 18-65 years attending OPD with complaints of persistent, non-specific and generalized musculoskeletal pain were included in the study. Thorough history was taken and examination was done. They were subjected to biochemical investigation including haemogram, serum vitamin D, serum calcium, serum phosphorus, serum alkaline phosphates, serum PTH and radiological investigation including X-ray: Pelvis with both hips, x-ray lumbosacral spine. We used scoring criteria including pain score and Diet criteria and diagnostic index of [1] for diagnosing Osteomalacia. Data received from biochemical test was analyzed and correlated with the clinical findings. Results: We observed that only generalized pain at presentation and vitamin D level of <19.23ng/ml was significantly associated with outcome. On evaluating the combination of presence of these criteria we observed it to be 75% sensitive and 93.8% specific with a PPV of 75% and NPV of 93.8% and an accuracy of 68.8%. Conclusion: Modified two component criteria can be used as for assessment, however, its efficacy against biopsy proven cases of Osteomalacia needs further evaluation apart from its validation in different population groups.

Metabolic bone disease osteomalacia

Osteomalacia is a rare disorder of bone metabolism leading to reduced bone mineralization. Underlying vitamin D deficiency and a disturbed phosphate metabolism (so-called hypophosphatemic osteomalacia) can cause the disease. Leading symptoms are dull localized or generalized bone pain, muscle weakness and cramps as well as increased incidence of falls. Rheumatic diseases, such as polymyalgia rheumatica, rheumatoid arthritis, myositis and fibromyalgia must be considered in the differential diagnosis. Alkaline phosphatase (AP) is typically elevated in osteomalacia while serum phosphate and/or 25-OH vitamin D3 levels are reduced. The diagnosis of osteomalacia can be confirmed by an iliac crest bone biopsy. Histological correlate is reduced or deficient mineralization of the newly synthesized extracellular matrix. Treatment strategies comprise supplementation of vitamin D and calcium and for patients with intestinal malabsorption syndromes vitamin D and calcium are also given parenterally. In renal phosphate wasting syndromes substitution of phosphate is the treatment of choice, except for tumor-induced osteomalacia when removal of the tumor leads to a cure in most cases.

Updates on rickets and osteomalacia: guidelines for diagnosis of rickets and osteomalacia

Rickets and osteomalacia are disorders of calcification characterized by defects of bone and cartilage mineralization during growth, and bone mineralization in adults, respectively. The specific x-ray findings including a cupping, flaring, and fraying of metaphysis and the elevation of the level of serum alkaline phosphatase are essential for the diagnosis of rickets. In addition, hypophosphatemia, hypocalcemia, and some symptoms including born deformity, spinal curvature, craniotabes, enlargement of the anterior fontanel, rachitic rosary, and joint swelling are also important. Clinicians need to consider the different normal ranges of the levels of serum alkaline phosphatase and phosphate depending on their patient's age when they diagnose their childhood patients. In contrast, the radiographic diagnosis of osteomalacia is difficult. The hypophosphatemia or hypocalcemia and the elevation of serum bone alkaline phosphatase are essential for the diagnosis of osteomalacia. Moreover, some clinical features including muscle weakness and bone pain, the decrease of bone density, and the finding of multiple uptake in bone scintigraphy or of the pseudofracture in bone x-ray study are also important. It is very useful for the differential diagnosis to measure the serum levels of 25-hydroxy vitamin D and fibroblast growth factor 23.

Fish skin disease and brittle bones

20-year-old South Indian girl presented to us with generalized body pain and stooping posture, and examination revealed dry, small, and branny scales consistent with ichthyosis vulgaris (Photograph 1 and 2). Investigation showed hypocalcemia (8 mg/dl), low phosphorus (2.1 mg/ dl), elevated alkaline phosphatase (1,024 IU/l low vitamin D (9 ng/ml), and elevated parathyroid hormone level (pg/ ml), and X-ray (1 and 2) showed generalized osteoporosis, osteoporotic fractures, and looser zone consistent with diagnosis of osteomalacia. Ichthyosis vulgaris also called fish skin disease is an autosomal dominant inherited skin disorder in which dead skin cells accumulate in thick, dry scales on skin’s surface. Osteomalacia is the softening of the bones due to impaired mineralization of bone matrix proteins secondary to inadequate amounts of available phosphorus and calcium which is also known as brittle bone disease. PubMed search revealed only one case series of congenital ichthyosis and vitamin D deficiency [1–3].

Development of osteomalacia in a post-liver transplant patient receiving adefovir dipivoxil

We report the case of a patient treated with living donor-related liver transplantation who suffered from osteomalacia during adefovir dipivoxil (ADV)-containing antiviral therapy for lamivudine-resistant hepatitis B virus infection. The patient had generalized bone pain, with severe hypophosphatemia after 20 mo of ADV therapy. Radiographic studies demonstrated the presence of osteomalacia. The peak plasma ADV level was 38 ng/mL after administration of ADV at 10 mg/d. It was also found that ADV affected the metabolism of tacrolimus, a calcineurin-inhibitor, and caused an increase in the plasma levels of tacrolimus. The disability was reversed with the withdrawal of ADV and with mineral supplementation. ADV can cause an elevation of plasma tacrolimus levels, which may be associated with renal dysfunction. High levels of ADV and tacrolimus can cause nephrotoxicity and osteomalacia. This case highlights the importance of considering a diagnosis of osteomalacia in liver transplantation recipients treated with both ADV and tacrolimus.

Metabolic bone disease in HIV infection

HIV mainly replicates in CD4þ T lymphocytes andmonocyte/macrophages causing severe immunologicalimpairment. In addition to the immune system, HIVinfection affects tissues and organs such as kidney, liver,the central nervous system, heart and bone showing acomplex pathogenesis [1].The advent and widespread use of highly activeantiretroviral therapy (HAART) in the last two decadeshasled toa markedimprovementinthe treatmentofHIVdisease even though viral infection cannot be eradicatedbecause HAART does not completely eliminate the viralreservoirs [2]. HAART has dramatically changed thecourseofHIVinfection froma fatalinfectiontoachronicand relatively manageable disease. The increased lifeexpectancyofHIVpatientsandtheeffectsofHAARThavechanged the management of HIV infection. Nowadaysmedical treatment is no longer focused solely on HIVinfection, opportunistic diseases and monitoring immunederangement, but also includes the control of metabolic,cardiovascular, liver, bone and kidney complications. Inparticular, bone alterations have been observed in thecourse of HIV disease representing a pivotal clinicalprobleminthemanagementofHIVpatientsespeciallyforapossible development of bone fractures [3]. The majorbonelesionsdetectableinHIVpatientsarerelatedtobonedemineralization (osteopenia/osteoporosis and osteoma-lacia) and osteonecrosis ([4] for a review).This report will discuss the pathogenesis, diagnosis andtreatment of major bone complications represented bybone demineralization diseases during HIV infection andHAART treatment.

Severe Proximal Myopathy with Remarkable Recovery after Vitamin D Treatment

Osteomalacia is an uncommon cause of muscle weakness. Our objectives were to describe features of myopathy associated with Vitamin D deficiency and examine the contributing factors leading to osteomalacic myopathy in our region. Patients identified retrospectively for the six year period ending in December 2006 with the diagnosis of osteomalacia and/or Vitamin D deficiency associated proximal muscle weakness were included. They were followed in three major centers in western Saudi Arabia. Clinical, biochemical, radiological, and electrophysiological findings were collected before and after Vitamin D treatment by chart review. Forty seven female patients aged 13-46 years (mean 23.5, SD 4.5) were included. All were veiled and covered heavily when outside the house for social and cultural reasons. Only eight (17%) had adequate varied diet with daily milk ingestion. All patients presented with progressive proximal muscle weakness lasting 6-24 months (mean 14) prior to our evaluation. The weakness was severe in six (13%) patients leading to wheel chair bound states. Associated musculoskeletal pain involving the back, hips, or lower limbs was common (66%). Osteomalcia was the referral diagnosis in only 11 patients and the remaining 36 (77%) patients were misdiagnosed. All patients had metabolic and radiological profiles suggestive of osteomalacia. Remarkable recovery was documented in all patients following oral cholecalciferol and calcium supplementation. Vitamin D deficiency is an important treatable cause of osteomalacic myopathy in Saudi Arabia. The diagnosis is frequently delayed or missed. Screening for Vitamin D deficiency in patients with acquired myopathy is needed to identify this treatable disorder.

Imaging of metabolic bone diseases

Bone scintigraphy and X-ray are complementary in the assessment of Paget's disease. Whereas bone scintigraphy allows visualization of the whole skeleton and 'hot spots', X-ray enables visualization of more detailed images of the pagetic bone lesion. X-ray may be invaluable in the diagnosis of osteomalacia, especially in children. As osteomalacia is characterized by impaired bone mineralization, the use of bone density measures may lead to misinterpretation of the condition as osteoporosis. Dual-energy X-ray absorptiometry at the femoral neck is the 'gold standard' for the assessment of osteoporosis. However, all devices are useful to predict the risk of fracture. In the future, high-resolution computer tomography and magnetic resonance imaging may become valuable clinical tools, capturing the architectural aspect of bone strength and improving fracture prediction models.

Osteomalacia from Mg-containing antacid: a case report of bilateral hip fracture

Non-prescribed antacid drugs that contain magnesium and aluminum are widely used in the treatment of gastritis and peptic ulcer. One of the side effects of these antacid drugs is that they bind phosphate in the gut and result in its malabsorption. In this paper, a 42-year-old female patient who used magnesium hydroxide (Magnesie calcinee powder 100 g) to benefit from its laxative feature, and developed osteomalacia after losing 90 kg in 2 years will be presented by going through the related literature. She had widespread joint pain and could hardly walk without the help. Ca, P and vitamin D were at lower limit of normal, ALP, Mg and PTH were increased in her laboratory tests. There were stress fractures at the femur neck and at the upper part of the tibia in plane radiographies. The patient was hospitalized with the diagnosis of osteomalacia and she was treated successfully.

The development of hypophosphataemic osteomalacia with myopathy in two patients with HIV infection receiving tenofovir therapy

We report two cases in which osteomalacia developed in patients on tenofovir-containing highly active antiretroviral therapy (HAART) in the context of Fanconi syndrome with hypophosphataemia. Bone pain was the presenting feature and myopathy followed in one case. Disability was reversed with withdrawal of the drug and with mineral supplementation. The cases highlight the importance of considering the diagnosis of osteomalacia in patients treated with tenofovir. A possible association with incipient acute renal failure, particularly during nonsteroidal anti-inflammatory drug (NSAID) use, needs further investigation.

Severe osteomalacia due to undiagnosed cœliac disease: three case reports of Tunisian women

We describe three cases of osteomalacia presenting in Tunisian women, all of whom had previously-undiagnosed coeliac disease (CD). Direct enquiry revealed an important weight loss and a history of diarrhoea in two patients, and a 15-year history of anaemia in one patient. Laboratory tests showed severe anaemia in the three cases. Reduced calcium was found in two cases, and corrected calcium was found in one case. Radiological examination showed fissure in two cases. The diagnosis of osteomalacia was made by clinical, biochemical and radiological features. Antigliadin, antireticulin, antiendomysial and anti-tissue transglutaminase antibodies were all positive in the three cases, and a small-bowel biopsy confirmed the diagnosis of CD. Treatment with gluten-free diet (GFD), supplemental calcium and vitamin D was initiated for the three patients, but only one patient complies strictly with the GFD; she showed a marked resolution of her symptoms.

Distal renal tubular acidosis as a cause of osteomalacia in a patient with primary Sjögren's syndrome

One half of the patients with primary Sjögren's syndrome has extraglandular manifestations, including renal involvement. The most frequent renal lesion is tubulo-interstitial nephritis, which manifests clinically as distal tubular acidosis and may result in the development of osteomalacia. In a 29-year-old female patient, with bilateral nephrolithiasis, the diagnosis of primary Sjögren's syndrome, tubulo-interstitial nephritis, distal renal tubular acidosis, and hypokalemia were established. She was treated for hypokalemia. Two years later she developed bone pains and muscle weakness, she wasn't able to walk, her proximal muscles and pelvic bones were painful, with radiological signs of pelvic bones osteopenia and pubic bones fractures. The diagnosis of osteomalacia was established and the treatment started with Schol's solution, vitamin D and calcium. In the following two months, acidosis was corrected, and the patient started walking. In our patient with primary Sjögren's syndrome and interstitial nephritis, osteomalacia was a result of the long time decompensate acidosis, so the correction of acidosis, and the supplementation of vitamin D and calcium were the integral part of the therapy.

Musculoskeletal manifestations of osteomalacia:report of 26 cases and literature review

Objective: This study was undertaken to describe the musculoskeletal manifestationsin a selected population of 26 patients with biopsy-proven osteomalacia (OM) and provide a literature update. Methods: The 26 patients with biopsy-proven OM were selected from a totalnumber of 79 patients who underwent anterior iliac crest biopsy. The diagnosis of OM was confirmed by the presence of an osteoid volume greater than 10%, osteoid width greater than 15 μm, and delayed mineralization assessed by double-tetracycline labeling. Results: OM was caused by intestinal malabsorption in 13 patients, whereas six other patients presented with hypophosphatemia of different causes. Five elderly patients presented with hypovitaminosis D, and in two patients the OM was part of renal osteodystrophy. Twenty-three patients presented with bone pain and diffuse demineralization, whereas three other patients had normal or increased bone density. Characteristic pseudofractures were seen in only seven patients. Six of the 23 patients with diffuse demineralization had an “osteoporotic-like pattern” without pseudofractures. Prominent articular manifestations were seen in seven patients, including a rheumatoid arthritis-like picture in three, osteogenic synovitis in three, and ankylosing spondylitis-like in one. Two other patients were referred to us with the diagnosis of possible metastatic bone disease attributable to polyostotic areas of increased radio nuclide uptake caused by pseudofractures. Six patients also had proximal myopathy, two elderly patients were diagnosed as having polymalgia rheumatica, and two young patients were diagnosed as having fibromyalgia. One of the patients who presented with increased bone density was misdiagnosed as possible fluorosis. Conclusion: OM is usually neglected when compared with other metabolic bonediseases and may present with a variety of clinical and radiographic manifestations mimicking other musculoskeletal disorders.