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Familial hypophosphatemic rickets  [cached]
Sattur A,Naikmasur V,Shrivastava R,Babshet M
Journal of the Indian Society of Pedodontics and Preventive Dentistry , 2010,
Abstract: Rickets is the failure of mineralization of osteoid and newly formed bones in a child skeleton. It is commonly associated with vitamin D deficiency; however, it can be because of a decrease in the serum phosphate levels leading to inadequate mineralization of cartilage and bone, consequent skeletal deformities, and growth retardation. The hypophosphatemic conditions that interfere in bone mineralization comprise many hereditary or acquired diseases. One of the hereditary types of hypophosphatemic rickets is the familial hypophosphatemic rickets. This rare variety was diagnosed in a 9-year-old patient who had come with a chief complaint of a missing tooth. In the present case, radiographic aspects of oral and systemic manifestations of familial hypophosphatemic rickets are highlighted.
"Hypercalciuric hypophosphatemic rickets "
Karamifar H,Amirhakimi GH
Acta Medica Iranica , 2001,
Abstract: A 13 year- old girl had rickets clinically evident sicne she was 10 years of age. She received multiple doses of vitamin D3 without improvement.This patient manifested an unusal form of hypophosphatemic rickets with hypercalciuria. It is recommended that urinary calcium excretion be assessed in all patients with hypophosphatemic rickets before the initiation of any therapy
Successful Medical Therapy for Hypophosphatemic Rickets due to Mitochondrial Complex I Deficiency Induced de Toni-Debré-Fanconi Syndrome  [PDF]
Sasigarn A. Bowden,Hiren P. Patel,Allan Beebe,Kim L. McBride
Case Reports in Pediatrics , 2013, DOI: 10.1155/2013/354314
Abstract: Primary de Toni-Debré-Fanconi syndrome is a non-FGF23-mediated hypophosphatemic disorder due to a primary defect in renal proximal tubule cell function resulting in hyperphosphaturia, renal tubular acidosis, glycosuria, and generalized aminoaciduria. The orthopaedic sequela and response to treatment of this rare disorder are limited in the literature. Herein we report a long term followup of a 10-year-old female presenting at 1 year of age with rickets initially misdiagnosed as vitamin D deficiency rickets. She was referred to the metabolic bone and genetics clinics at 5 years of age with severe genu valgum deformities of 24 degrees and worsening rickets. She had polyuria, polydipsia, enuresis, and bone pain. Diagnosis of hypophosphatemic rickets due to de Toni-Debré-Fanconi syndrome was subsequently made. Respiratory chain enzyme analysis identified a complex I mitochondrial deficiency as the underlying cause. She was treated with phosphate (50–70?mg/kg/day), calcitriol (30?ng/kg/day), and sodium citrate with resolution of bone pain and normal growth. By 10 years of age, her genu valgus deformities were 4 degrees with healing of rickets. Her excellent orthopaedic outcome despite late proper medical therapy is likely due to the intrinsic renal tubular defect that is more responsive to combined alkali, phosphate, and calcitriol therapy. 1. Introduction Hypophosphatemic rickets (HR) is a group of diseases sharing similar biochemical phenotypes including excessive renal phosphate wasting, low serum phosphate, and inappropriately low or normal serum 1,25-dihydroxyvitamin D (1,25-OHD) for the given level of hypophosphatemia. After the discovery of fibroblast growth factor 23 (FGF-23), a phosphaturic factor, that is produced by osteocytes and osteoblasts and regulates phosphate homeostasis, HR is now divided into 2 groups: FGF23-mediated and non-FGF23-mediated [1]. FGF23-mediated HR consists of a number of inherited disorders such as X-linked hypophosphatemic rickets (XLH), the most common form, or less common forms such as autosomal dominant/autosomal recessive hypophosphatemic rickets. Aberrant production of FGF-23 is seen in tumor-induced osteomalacia or fibrous dysplasia. The non-FGF23-mediated hypophosphatemic rickets includes hypophosphatemic rickets with hypercalciuria, and renal Fanconi syndrome. Primary de Toni-Debré-Fanconi syndrome is due to a generalized defect in renal proximal tubule cell function and is characterized by hypophosphatemic rickets, renal tubular acidosis, renal glycosuria, and generalized aminoaciduria. The orthopaedic sequela of
Hypophosphatemic Rickets: Presenting Features of Fanconi—Bickel Syndrome
Mahua Roy,K. Bose,D. K. Paul,Puja Anand
Case Reports in Pathology , 2011, DOI: 10.1155/2011/314696
Abstract: Fanconi-Bickel Syndrome (FBS) is a rare variety of glycogen storage disease (GSD). Characterized by massive hepatomegaly due to glycogen accumulation, severe hypophosphatemic rickets, and marked growth retardation due to proximal renal tubular dysfunction. We report a young boy presented as hypophosphatemic rickets with hepatomegaly and subsequently diagnosed as FBS.
Raquitismo hipofosfatémico ligado al X (XLH):: Presentación de una familia, asociado a una osteoartritis prematura y simulando además una espondiloartropatía seronegativa X-linked hypophosphatemic rickets: Presentation of a family, associated with premature osteoarthritis, and simulating a seronegative spondyloarthropathy.  [cached]
Gerardo Quintana López,José Félix Restrepo,álvaro Sánchez,Enrique Calvo
Revista Colombiana de Reumatología , 2008,
Abstract: En este artículo presentamos un enfoque práctico para el diagnóstico diferencial de desórdenes hipofosfatémicos heredados junto a la osteomalacia inducida por tumor (una forma adquirida), profundizando sobre el raquitismo hipofosfatémico ligado al cromosoma X y hacemos la descripción de una familia con este diagnóstico. In this article we present a practical focus for the differential diagnosis of hypophosphatemic disorders inherited join to the osteomalacia induced by tumor (an acquired form); deepening about the X-linked hypophosphatemic rickets and we present description of a family with this diagnosis.
Dental abnormalities and oral health in patients with Hypophosphatemic rickets
Souza, Melissa Almeida;Soares Junior, Luiz Alberto Valente;Santos, Marcela Alves dos;Vaisbich, Maria Helena;
Clinics , 2010, DOI: 10.1590/S1807-59322010001000017
Abstract: introduction: hypophosphatemic rickets represents a group of heritable renal disorders of phosphate characterized by hypophosphatemia, normal or low serum 1,25 (oh)2 vitamin d and calcium levels. hypophosphatemia is associated to interglobular dentine and an enlarged pulp chambers. aim: our goal was to verify the dental abnormalities and the oral health condition in these patients. material and methods: prospective study of oral conditions in patients with hypophosphatemic rickets. this report employed a simple method to be easily reproducible: oral clinical exam and radiographic evaluation. results: fourteen patients were studied, 5 males, median age of 11years (4 to 26). occlusion defects (85,7%) and enamel hypoplasia (57,1%) were significant more frequently than dental abscesses (one patient). we observed enlarged pulp chambers in 43% of the patients and hypoplasia and dentin abnormalities in 14,3%. we could not detect a significant correlation between dental abnormalities and delayed treatment (p>0,05). dmft index for 6 to 12 years patients (n = 12) showed that the oral health is unsatisfactory (mean dmft = 5). conclusions: patients with hypophosphatemic rickets frequently present dental alterations and these are not completely recovered with the treatment, unless dental abscess and they need a periodical oral examination.
Hypophosphatemic Osteomalacia in Neurofibromatosis Type 1: Insufficiency Fractures  [PDF]
Ahmet Y?lmaz,Erol ?enesizo?lu,Hakan Beycio?lu
Turkderm , 2010,
Abstract: Neurofibromatosis is a group of clinically related systemic disorders characterized by autosomal dominant inheritance. Hypophosphatemia may rarely develop due to phosphorus loss in the urine in a patient with neurofibromatosis type 1. We present here a 42-year-old male patient with neurofibromatosis type 1, who has two-year history of bone pain and fatigue. Hypoproteinemia, very low blood phosphorus level, significant reduction in bone mineral density, and insufficiency fractures of the proximal femurs and left fibula were detected. It was considered that hypophosphatemic osteomalacia led to stress fractures. The fractures were sufficiently healed with bisphosphonate, vitamin D, calcium treatment and phosphorus-rich diet. The blood phosphorus level of the patient approached approximately the normal limits. Long-lasting spinal, arm and leg pain in patients with neurofibromatosis type 1 must be carefully followed. It should be kept in mind that hypophosphatemic osteomalacia may occur in these patients. In addition to systemic examination, measurement of blood phosphorus level and bone mineral density must be done in order to prevent severe morbidities.
Oncogenic osteomalacia: Problems in diagnosis and long-term management  [cached]
Dhammi Ish,Jain Anil,Singh Ajay,Mishra Puneet
Indian Journal of Orthopaedics , 2010,
Abstract: Oncogenic osteomalacia is a rare association between mesenchymal tumors and hypophosphatemic rickets. It is more of a biochemical entity than a clinical one. The pathophysiology of the tumor is not clear. However, it has been seen that the clinical and biochemical parameters become normal if the lesion responsible for producing the osteomalacia is excised. For a clinical diagnosis a high index of suspicion is necessary. We present three such cases where in one the oncogenic osteomalacia reversed while in rest it did not. We present this case report to sensitize about the entity.
Three-Year Successful Cinacalcet Treatment of Secondary Hyperparathyroidism in a Patient with X-Linked Dominant Hypophosphatemic Rickets: A Case Report  [PDF]
Diana Grove-Laugesen,Lars Rejnmark
Case Reports in Endocrinology , 2014, DOI: 10.1155/2014/479641
Abstract: Hypophosphatemic rickets (HR) is a rare inherited disorder characterized by a classic rickets phenotype with low plasma phosphate levels and resistance to treatment with vitamin D. Development of secondary hyperparathyroidism (SHPT) as a direct consequence of treatment is a frequent complication and a major clinical challenge, as this may increase risk of further comorbidity. Cinacalcet, a calcimimetic agent that reduces the secretion of PTH from the parathyroid glands, has been suggested as adjuvant treatment to SHPT in patients with HR. However, only two papers have previously been published and no data are available on effects of treatment for more than six months. We now report a case of 3-year treatment with cinacalcet in a patient with HR complicated by SHPT. A 53-year-old woman with genetically confirmed X-linked dominant hypophosphatemic rickets developed SHPT after 25 years of conventional treatment with alfacalcidol and phosphate supplements. Cinacalcet was added to her treatment, causing a sustained normalization of PTH. Ionized calcium decreased, requiring reduction of cinacalcet, though asymptomatical. Level of phosphate was unchanged, but alkaline phosphatase increased in response to treatment. Cinacalcet appeared to be efficient, safe, and well tolerated. We recommend close control of plasma calcium to avoid hypocalcemia. 1. Introduction Familial hypophosphatemic rickets (HR) is a rare inherited disorder characterized by renal phosphate wasting and inappropriately low levels of calcitriol causing hypophosphatemia and abnormal bone mineralization, first described by Albright [1]. The typical phenotype is characterized by severe bone deformities and growth retardation presenting in childhood with bowing of legs and shortness of length. In adulthood, the disease is often complicated by osteomalacia with bone pain and arthralgias due to joint deformities and enthesopathies. Occurrence of dental problems like tooth abscesses is also common [2, 3]. In most instances, HR is caused by mutations in genes affecting the metabolism of fibroblast growth factor 23 (FGF-23) [4]. The prevailing form of HR is X-linked dominant hypophosphatemia (XLH) caused by an inactivating mutation of the PHEX gene [5]. Medical treatment of HR includes activated vitamin D analogues and supplements with high amounts of oral inorganic phosphate salts which heal osteomalacia, but neither corrects the biochemical abnormalities nor the bone deformities [6]. The renal phosphate leak is not improved; in contrary, treatment has been shown to increase levels of FGF23 [7]. Also,
Progressive course of hypophosphatemic osteomalacia during 25-year follow up  [PDF]
Bojovi? Jaroslav,Pavlica Ljiljana
Medicinski Pregled , 2010, DOI: 10.2298/mpns1006419b
Abstract: Introduction. Hypophosphatemic osteomalacia is defined as mineralization of the newly formed bone matrix (osteoids) in adults as a consequence of the phosphate deficiency. Case report. A female from Belgrade, aged 62 years fell ill in 1982. when she was 36. She first felt pains in bones associated with chronic fatigue. In 1986. during her hospitalization the presence of neoplastic hematologic, endocrinologic, urogenital and gastroenterologic system deseases was excluded. Hypophosphatemic osteomalacia was diagnosed on the basis of the history, clinical presentation, physical examination, radiologic finding and laboratory analyses (lower serum phosphoruslevel). The initial therapy included a mixture of phosphates, vitamin D and calcium. The doses were several times corrected over the following four years. In 1990 she had a mild clinical deterioration requiring recorrection of the mentioned therapy. In 1993 bilateral femoral neck fractures occurred and subsequent osetosynthe as wasperfotmed. The disease had a progressive character in spite of the administered drug therapy so that multiple fractures occurred in 2000. During the last hospitalization in 2008. neither new pseudo fractures nor fractures were found although biochemical profile of the hypophosphatemic osteomalacia was still present. Conclusion. The aim of this study was to emphasize the complexity in both diagnostic and therapeutic approach in the case of hypophosphatemic osteomalacia. In the presented case the patient showed a complicated and progressive course. In our opinion such course was a consequence of impossible etiologic treatment and discontinued therapy.
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