Osteomalacia. Diagnóstico y tratamiento / Osteomalacia. Diagnosis and treatment

Introducción: la osteomalacia se caracteriza por la falta de mineralización de la sustancia osteoide, que afecta al hueso cortical y al hueso esponjoso maduro. Es una enfermedad que se presenta en adultos y niños, aunque la causa es diferente en cada uno. Objetivo: exponer la generalidad de la osteomalacia por ser una enfermedad que produce serias afectaciones a la población que la padece, especialmente a los niños. Se enfatiza en el diagnóstico y su tratamiento. Desarrollo: a fin de resumir los elementos esenciales para establecer el diagnóstico de osteomalacia hay que plantear en primer lugar, la presencia de un trastorno de la mineralización ósea, de ahí que además de tener en cuenta las causas de la enfermedad, su curso clínico y la sintomatología. Conclusiones: una recomendación importante es no tener en cuenta la posibilidad de complicaciones en el curso de la enfermedad, como las fracturas, que, aunque sean parte del cuadro clínico, al producirse pueden ocasionar graves problemas, como el caso de las que aparecen en las costillas, que si se desplazan pueden interesar órganos vitales, de modo que en este tipo de pacientes no debe excluirse la posibilidad de emergencias o de urgencias reumatológicas tanto en los adultos como en los niños(AU)

Introduction: osteomalacia is characterized by the lack of mineralization of the osteoid substance, which affects cortical bone and mature cancellous bone. It is a disease that occurs in adults and children, although the cause is different in each. Objective: to expose the generality of osteomalacia for being a disease that causes serious affectations to the population that suffers it, especially to children. Emphasis is placed on the diagnosis and its treatment. Development: in order to summarize the essential elements to establish the diagnosis of osteomalacia, we must first consider the presence of a bone mineralization disorder, hence, in addition to taking into account the causes of the disease, its clinical course and the symptomatology. Conclusions: an important recommendation is not to take into account the possibility of complications in the course of the disease, such as fractures, which, although they are part of the clinical picture, can cause serious problems when they occur, as in the case of those that appear in the ribs, which if they move may involve vital organs, so that in this type of patients should not exclude the possibility of emergencies or rheumatological emergencies in both adults and children(AU)

Hiperparatireoidismo associado à osteomalacia hipofosfatêmica do adulto: relato de caso e revisão da literatura / Hyperparathyroidism associated with hypophosphatemic osteomalacia: case report and review of the literature

A osteomalacia hipofosfatêmica é uma doença rara caracterizada por hipofosfatemia, níveis elevados de fosfatase alcalina e diminuição da densidade óssea. O tratamento é realizado com suplementação oral com fosfato e vitamina D e, nos casos de osteomalacia oncogênica, com a ressecção do tumor. Relatamos o caso de uma paciente que apresentou quadro de osteomalácia hipofosfatêmica de causa indeterminada. Apesar de extensivamente procurado, nenhum tumor produtor de substância hipofosfatêmica foi localizado. A paciente foi tratada como suplementação de fosfato e vitamina D por longo período, evoluindo com quadro de hiperparatireoidismo terciário. A retirada de três paratireóides não normalizou os níveis de PTH e a paciente recusou-se a continuar a investigação e o tratamento. Após dez anos de tratamento irregular, foi internada por insuficiência respiratória causada por colabamento do arcabouço costal e múltiplas fraturas, evoluindo para o óbito. Os autores discutem a relação entre osteomalácia e hiperparatireoidismo e o curso agressivo da doença.

Osteomalacia - A commonly misdiagnosed cause of gait difficulty

Osteomalacia is a metabolic bone disorder caused by deficiency of Vitamin D and its active metabolites. We report 46 cases of Osteomalacia diagnosed on the basis of clinical features of bone pain, gait difficulty and muscle weakness, plus biochemical findings of a low or normal serum calcium, low phosphorus and raised serum alkaline phosphatase level. Urinary calcium, phosphorus and serum paratharmone levels were also estimated in a few cases. Radiologic features included a typical fuzziness of bone architecture and Looser's zones. Out of 46 cases, 4 were males and 42 females. Age ranged from 13 to 45 years. In 3 males disease was attributed to drugs [Phenytoin, and Carbamazepine] and one to renal osteodystrophy. Out of the 42 female patients 4 were diagnosed as Renal Tubular Acidosis, 3 had Neurofibromatosis associated with Osteomalacia, 1 had malabsorption with Crohn's disease, 2 had hypophosphataemic Osteomalacia, and 2 were diagnosed to be associated with drugs [Rifampicin, Phenytoin and Phenobarbitone]. Eight female patients had onset of symptoms during or after pregnancy [mostly multiparous]. 10 female patients had history of deprivation of sunshine and low Vitamin D diet [deprivational Osteomalacia]. In 12 female patients cause could not be ascertained despite search. All showed good responses to Vitamin D or its analogues. The time between the onset of symptoms and presentation to the department of Neurology where they were diagnosed varied from 1 to 4 years. It is essential that the awareness level of the medical community be raised so that unnecessary morbidity from Osteomalacia may be prevented

Chronic calcific pancreatitis associated with osteomalacia and secondary hyperparathyroidism.

A 22-year-old woman with chronic calcific pancreatitis had dramatic relief of pain after pancreaticojejunostomy. Four years later, she presented with steatorrhea with osteomalacia and secondary hyperparathyroidism, a rare occurrence in chronic pancreatitis. She improved with pancreatic enzyme supplementation and calcium and vitamin D therapy.

Metabolic studies in congenital vitamin D deficiency rickets.

Congenital rickets in 3 newborns of mothers with advanced nutritional osteomalacia, healed with maternal breast milk feeding when mothers alone were given calcium supplements and 7.5 mg of intravenous D2 and the mother baby pair protected from sunlight. Maternal plasma biochemistry indicated more severe vitamin D deficiency compared to their newborns (intrauterine foetal priority). The first dose of 7.5 mg of vitamin D3 and calcium supplements to mother healed osteomalacia but did not appear to heal the rickets of their breast fed infants (extrauterine maternal priority for vitamin D). A second dose given at 3 months interval healed the rickets in their infants and the biochemistry of the mother and baby returned towards normal. Congenital rickets developed when maternal bone mineral and vitamin D stores had been completely exhausted. Raised IPTH levels in the newborn suggested that foetal parathyroids were responsive to hypocalcaemic stimulus.