ABSTRACT
Se presenta un caso de osteomalacia oncogénica en un varón de 50 años, con fuertes dolores óseos y gran debilidad muscular durante 4 años. Tenía varias deformidades vertebrales dorsales en cuña, fracturas en ambas ramas iliopubianas y en una rama isquiopubiana, y una zona de Looser en la meseta tibial derecha. Se localizó un tumor de 2 cm de diámetro en el hueco poplíteo derecho mediante centellograma con octreótido marcado con tecnecio. El tumor fue extirpado quirúrgicamente. La microscopía mostró un tumor mesenquimático fosfatúrico, de tejido conectivo mixto. La inmunotinción demostró FGF-23. Hubo rápida mejoría, con consolidación de las fracturas pelvianas y de la pseudofractura tibial y normalización de las alteraciones bioquímicas.
A case of oncogenic osteomalacia in a 50-year-old male is here presented. He suffered severe bone pain and marked muscular weakness of 4 years' duration. There were several vertebral deformities in the thoracic spine, bilateral fractures of the iliopubic branches, another fracture in the left ischiopubic branch, and a Looser's zone in the right proximal tibia. An octreotide-Tc scan allowed to identify a small tumor in the posterior aspect of the right knee. It was surgically removed. Microscopically, it was a phosphaturic mesenchymal tumor-mixed connective tissue (PMT-MCT). Expression of FGF-23 was documented by immune-peroxidase staining. There was rapid improvement, with consolidation of the pelvic fractures and the tibial pseudo-fracture. The laboratory values returned to normal.
Subject(s)
Humans , Male , Middle Aged , Fibroblast Growth Factors , Mesenchymoma , Neoplasms, Connective Tissue/etiology , Hypophosphatemia, Familial/etiology , KneeABSTRACT
Se presenta un caso de osteomalacia oncogénica en un varón de 50 años, con fuertes dolores óseos y gran debilidad muscular durante 4 años. Tenía varias deformidades vertebrales dorsales en cuña, fracturas en ambas ramas iliopubianas y en una rama isquiopubiana, y una zona de Looser en la meseta tibial derecha. Se localizó un tumor de 2 cm de diámetro en el hueco poplíteo derecho mediante centellograma con octreótido marcado con tecnecio. El tumor fue extirpado quirúrgicamente. La microscopía mostró un tumor mesenquimático fosfatúrico, de tejido conectivo mixto. La inmunotinción demostró FGF-23. Hubo rápida mejoría, con consolidación de las fracturas pelvianas y de la pseudofractura tibial y normalización de las alteraciones bioquímicas.(AU)
A case of oncogenic osteomalacia in a 50-year-old male is here presented. He suffered severe bone pain and marked muscular weakness of 4 years duration. There were several vertebral deformities in the thoracic spine, bilateral fractures of the iliopubic branches, another fracture in the left ischiopubic branch, and a Loosers zone in the right proximal tibia. An octreotide-Tc scan allowed to identify a small tumor in the posterior aspect of the right knee. It was surgically removed. Microscopically, it was a phosphaturic mesenchymal tumor-mixed connective tissue (PMT-MCT). Expression of FGF-23 was documented by immune-peroxidase staining. There was rapid improvement, with consolidation of the pelvic fractures and the tibial pseudo-fracture. The laboratory values returned to normal.(AU)
Subject(s)
Humans , Male , Middle Aged , Fibroblast Growth Factors/metabolism , Mesenchymoma/metabolism , Neoplasms, Connective Tissue/etiology , Hypophosphatemia, Familial/etiology , KneeABSTRACT
A case of oncogenic osteomalacia in a 50-year-old male is here presented. He suffered severe bone pain and marked muscular weakness of 4 years' duration. There were several vertebral deformities in the thoracic spine, bilateral fractures of the iliopubic branches, another fracture in the left ischiopubic branch, and a Looser's zone in the right proximal tibia. An octreotide-Tc scan allowed to identify a small tumor in the posterior aspect of the right knee. It was surgically removed. Microscopically, it was a phosphaturic mesenchymal tumor-mixed connective tissue (PMT-MCT). Expression of FGF-23 was documented by immune-peroxidase staining. There was rapid improvement, with consolidation of the pelvic fractures and the tibial pseudo-fracture. The laboratory values returned to normal.
Subject(s)
Fibroblast Growth Factors/metabolism , Mesenchymoma/metabolism , Neoplasms, Connective Tissue/etiology , Fibroblast Growth Factor-23 , Humans , Hypophosphatemia, Familial/etiology , Knee , Male , Middle Aged , Osteomalacia , Paraneoplastic SyndromesABSTRACT
A case of oncogenic osteomalacia in a 50-year-old male is here presented. He suffered severe bone pain and marked muscular weakness of 4 years duration. There were several vertebral deformities in the thoracic spine, bilateral fractures of the iliopubic branches, another fracture in the left ischiopubic branch, and a Loosers zone in the right proximal tibia. An octreotide-Tc scan allowed to identify a small tumor in the posterior aspect of the right knee. It was surgically removed. Microscopically, it was a phosphaturic mesenchymal tumor-mixed connective tissue (PMT-MCT). Expression of FGF-23 was documented by immune-peroxidase staining. There was rapid improvement, with consolidation of the pelvic fractures and the tibial pseudo-fracture. The laboratory values returned to normal.
Subject(s)
Fibroblast Growth Factors/metabolism , Mesenchymoma/metabolism , Neoplasms, Connective Tissue/etiology , Humans , Hypophosphatemia, Familial/etiology , Knee , Male , Middle AgedABSTRACT
La cistinosis nefropática, rara afección recesiva, se produce por defecto en el transporte lisosomal de cistina, y depósitos de cristales intracelulares en riñón, córnea, y otros tejidos. Constituye la primera causa congénita de síndrome de Fanconi, y evoluciona en la primera década de la vida a insuficiencia renal crónica. El diagnóstico se confirma por una detección de cistina en leucocitos y linfoblastos circulantes. Su tratamiento consiste en la reposición de las pérdidas por la tubolopatía, administración de cisteamina, que depleta cistina y favorece su transporte por la pared lisosomal. El objetivo de la presentación es dar a conocer el primer caso de cistinosis documentado y tratado en Chile. Se presenta el caso de un menor hospitalizado a los quince meses de vida, con desnutrición avanzada, raquitismo clínico, deshidratación severa, acidosis metabólica, hipokalemia e hipofosfemia severas, comprobándose tubulopatía de Fanconi. Se detectó concentración elevada de cistina en polimorfonucleares, confirmando diagnóstico de cistinosis. En tratamiento desde hace dos años con cisteamina oral, muestra excelente evolución pondoestatural y conservación de la función renal, persistiendo la tubulopatía
Subject(s)
Humans , Male , Infant , Cystinosis/complications , Renal Insufficiency, Chronic/etiology , Fanconi Syndrome/etiology , Cysteamine/therapeutic use , Cystinosis/diagnosis , Cystinosis/drug therapy , Cystinosis/urine , Hypophosphatemia, Familial/etiologySubject(s)
Humans , Male , Female , Infant, Newborn , Bone Development/physiology , Rickets/etiology , Vitamin D Deficiency/complications , Vitamin D/metabolism , Calcium/deficiency , Hypophosphatemia, Familial/etiology , Milk , Rickets/physiopathology , Rickets/prevention & control , Rickets/therapyABSTRACT
Se presentan las alteraciones tubulares que afectan el manejo del agua (diabetes insípida nefrogénica) y el transporte de fosfatos (raquitismo vitamino D resistente o hipofosfatemia ligada al cromosoma X) en sus formas primarias y adquiridas, destacándose los mecanismos de acción actualmente reconocidos, la presentación clínica y su tratamiento
Subject(s)
Humans , Diabetes Insipidus , Hypophosphatemia, Familial/drug therapy , Hypophosphatemia, Familial/etiologyABSTRACT
In a study of children with chronic disorders of calcium and phosphate homeostasis, enamel hypoplasia was found in hereditary vitamin D-dependency rickets and in hypoparathyroidism, conditions characterized by hypocalcemia, and was not found in X-linked hypophosphatemic rickets, a condition in which the plasma calcium concentration is normal. The occurrence of enamel hypoplasia bore no relation to the plasma phosphate concentration. Enamel hypoplasia has also been reported in other pediatric disorders in which hypocalcemia is a major sign (for example, vitamin D deficiency, prematurity, and neonatal tetany). The existence of enamel hypoplasia in a hypoparathyroid or rachitic patient, when correlated with the chronology of enamel mineralization, helps to establish the time of onset of hypocalcemia. The observations led us to the hypothesis that a low serum calcium concentration during enamel formation is a specific determinant of enamel hypoplasia. This hypothesis may be relevant to the etiology of linear enamel hypoplasia, an endemic lesion of primary teeth in children of many Third World countries that predisposes the teeth to dental caries. The hypothesis may therefore be relevant also in explaining the prevalence of caries in the primary teeth of children in many underdeveloped countries.
Subject(s)
Dental Enamel Hypoplasia/etiology , Hypocalcemia/complications , Calcium/blood , Child , Humans , Hypoparathyroidism/etiology , Hypophosphatemia, Familial/etiologySubject(s)
Hyperparathyroidism/complications , Infant, Newborn, Diseases/etiology , Tetany/etiology , Adenoma/complications , Adenoma/pathology , Adult , Child, Preschool , Female , Humans , Hyperparathyroidism/etiology , Hypocalcemia/etiology , Hypophosphatemia, Familial/etiology , Infant , Infant, Newborn , Male , Parathyroid Neoplasms/complications , Parathyroid Neoplasms/pathology , PregnancySubject(s)
Bone Neoplasms/complications , Hemangioma/complications , Hypophosphatemia, Familial/complications , Osteomalacia/complications , Humans , Hypophosphatemia, Familial/etiology , Hypophosphatemia, Familial/metabolism , Male , Middle Aged , Osteomalacia/etiology , Vitamin D/metabolism , Vitamin D/therapeutic useABSTRACT
A 5-year-old boy was found to have severe rickets in association with hyperpigmented, linear, verrucous, epidermal tumors, typical of the epidermal nevus syndrome. Normocalcemia (9.6 mg/dl), hypophosphatemia (2.0 mg/dl), elevated serum alkaline phosphatase concentration (313 IU), decreased renal tubular reabsorption of phosphorus (35%), radiologic evidence of rickets, and lack of response to usual therapeutic doses of vitamin D suggested hypophosphatemic vitamin D-resistant rickets. Therapy with vitamin D in doses to 750,000 IU and oral phosphate, 2.0 gm/day, failed to induce healing of the rickets. A subtotal parathyroidectomy performed when the patient was 9 years old was also without effect. When he was 12 years old several fibroangiomas on the face and left lower limb were excised. Within three months all biochemical abnormalities resolved and radiologic evidence of healing was observed. A portion of excised tissue was homogenized and injection of the supernate into a 6-week-old puppy induced excessive phosphaturia. The data suggest that the rickets was induced by a phosphaturic substance extractable from the tumors.