RESUMEN
We report a new kindred of hereditary hypophosphatemic rickets with hypercalciuria. The symptomatic child and several relatives had increased renal phosphate clearance leading to hypophosphatemia, hyperabsorptive hypercalciuria, low PTH and increased 1,25-(OH)2D serum level. However, association with vitamin D deficiency and normal urinary excretion of cyclic AMP might suggest another tubular defect in phosphate transport.
Asunto(s)
Calcio/orina , Salud de la Familia , Hipofosfatemia Familiar/genética , Hipofosfatemia Familiar/orina , Proteínas Portadoras/metabolismo , Niño , AMP Cíclico/orina , Femenino , Genes Recesivos , Humanos , Hormona Paratiroidea/sangre , Proteínas de Unión a Fosfato , Fosfatos/orinaRESUMEN
A 30 year-old, mentally retarded female presented with uncontrolled seizures. The diagnosis of pseudohypoparathyroidism was established on grounds of clinical, laboratory and radiological evaluation. Despite normalization of serum calcium levels with vitamin D treatment, the patient continued to suffer from frequent convulsions. The possible pathogenesis of the therapy-resistant seizures and the therapeutic approach are discussed.
Asunto(s)
Anticonvulsivantes/uso terapéutico , Seudohipoparatiroidismo/complicaciones , Convulsiones/etiología , Adulto , Calcio/sangre , Resistencia a Medicamentos , Electroencefalografía , Femenino , Humanos , Discapacidad Intelectual/complicaciones , Convulsiones/tratamiento farmacológico , Tomografía Computarizada por Rayos XRESUMEN
A 5-year-old girl presented with lower limb deformities, delayed ambulation, short stature, facial dysmorphism and scoliosis. Radiologic examination showed severe anterior and external bowing of the femurs and anterior and internal bowing of the tibia and fibula, with posterior and medial cortical thickening. Square iliac wings, horizontal sacrum and low-set L5 were also seen. The diagnosis of Weismann-Netter, Stuhl syndrome was established with the exclusion of abnormalities in mineral and vitamin D metabolism. This rare skeletal dysplasia should be included in the radiologic differential diagnosis of congenital deformities of the lower extremities.
Asunto(s)
Enfermedades del Desarrollo Óseo/diagnóstico por imagen , Preescolar , Femenino , Humanos , Radiografía , SíndromeRESUMEN
BACKGROUND: Maffucci's syndrome (MS) is distinguished by the enigmatic association of benign cartilaginous bone tumors and soft tissue hemangiomas. METHODS: This study was conducted to define the distribution of nerves and neuropeptides around these tumors. Results were measured by quantitative image analysis of immunohistochemical staining. Four types of tissues were compared: connective tissues around normal muscles, solitary hemangiomas, MS hemangiomas, and MS enchondromas (the last two from a single patient). RESULTS: The number of nerves was found to be quadrupled in both types of hemangiomas as compared to normal connective tissue. A unique feature of MS tissues is the presence of an increased number of nerve fibers not only in the lesions but also in histologically normal margins of resection surrounding the lesions. Furthermore, hemangiomas of both types were found to contain a significantly higher number of calcitonin gene-related peptide-, substance P-, and methionine enkephalin-positive fibers than did normal muscle or its related fibroconnective tissue. These neuropeptides are mitogens, and their presence stimulates the growth of the abnormal blood vessels. Enchondroma fragments from an MS patient contained numerous methionine enkephalin-positive nerves. This neuropeptide is known to act as a growth factor in cartilage proliferation. CONCLUSIONS: A neural abnormality of the neuropeptidergic nervous system seems to relate to the abnormal tumors seen in MS.
Asunto(s)
Encondromatosis/patología , Hemangioma/patología , Mitógenos/análisis , Neurotransmisores/análisis , Neoplasias de los Tejidos Blandos/patología , Péptido Relacionado con Gen de Calcitonina/análisis , Preescolar , Encondromatosis/metabolismo , Encefalina Metionina/análisis , Hemangioma/química , Histocitoquímica , Humanos , Masculino , Nervios Periféricos/química , Nervios Periféricos/patología , Neoplasias de los Tejidos Blandos/química , Sustancia P/análisisRESUMEN
Benign fibroepithelial polyps of the ureter and renal pelvis are extremely rare in children. Two cases are presented and the clinical and surgical aspects of diagnosis and treatment are discussed.
Asunto(s)
Neoplasias Renales , Pelvis Renal , Pólipos , Neoplasias Ureterales , Adolescente , Niño , Preescolar , Humanos , Neoplasias Renales/diagnóstico , Neoplasias Renales/cirugía , Masculino , Pólipos/diagnóstico , Pólipos/cirugía , Neoplasias Ureterales/diagnóstico , Neoplasias Ureterales/cirugíaRESUMEN
The treatment of X-linked hypophosphatemia (XLH) consists of phosphate and vitamin D3 derivatives. Transient hypercalciuria and hypercalcemia are well-known signs of vitamin D intoxication. Despite urinary calcium excretion control, the danger of nephrocalcinosis in treated patients has been emphasized. It has recently been suggested that hyperoxaluria might be a causative factor of nephrocalcinosis other than calcium in phosphate-treated XLH patients. We measured urinary oxalate and phosphate excretion in 12 patients with the syndrome of hereditary hypophosphatemic rickets with hypercalciuria (HHRH) receiving only oral phosphates and in 5 XLH patients receiving both oral phosphates and vitamin D. No correlation was found between the dosage of phosphate supplements or urinary phosphate excretion and urinary oxalate excretion, in either group of patients. Nephrocalcinosis, presenting as hyperechogenicity of the medullary pyramids, was found in 2 of the 5 XLH patients and only in 2 HHRH patients who had been treated with excessive doses of vitamin D2 and calcium, prior to the true diagnosis being established. We conclude: (1) hyperoxaluria is not a cause of nephrocalcinosis in phosphate-treated patients with hereditary hypophosphatemic rickets; (2) prolonged phosphate treatment alone does not induce nephrocalcinosis in HHRH patients, and (3) we believe that in XLH patients, nephrocalcinosis is essentially due to vitamin D overdosage at some stage, or noncompliance in phosphate intake, leading to repeated undetected hypercalciuric periods.
Asunto(s)
Hiperoxaluria/complicaciones , Hipofosfatemia Familiar/complicaciones , Nefrocalcinosis/etiología , Adolescente , Adulto , Calcio/efectos adversos , Niño , Preescolar , Ergocalciferoles/efectos adversos , Femenino , Humanos , Hipofosfatemia Familiar/tratamiento farmacológico , Lactante , Masculino , Fosfatos/efectos adversosRESUMEN
Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is a new autosomal form of hypophosphatemic rickets, recently described. This disease is characterized, and differs from other forms of hereditary hypophosphatemic rickets and/or osteomalacia by increased serum levels of 1,25-dihydroxyvitamin D, hypercalciuria and complete remission of the disease on phosphate therapy alone. However, only another probable Israeli kindred, and seemingly a few sporadic cases from Europe, North America and Japan have been reported in the literature. We describe here a new kindred of Jewish Yemenite origin (unrelated to other Israeli families) with typical HHRH. Two additional members of this family suffer from a milder asymptomatic form of the disease, which presents as absorptive hypercalciuria without signs or symptoms of bone disease. It seems to us that HHRH is underdiagnosed, due to its similarity to other hypophosphatemic syndromes in clinical, radiological and most biochemical parameters. Therefore, it is recommended that urinary calcium excretion and serum 1,25-dihydroxyvitamin D concentrations be measured in every patient with hypophosphatemic rickets/and or osteomalacia before the initiation of any therapy. The correct diagnosis of HHRN is of immense therapeutic implications. Phosphate therapy alone could cause a complete remission in HHRH, while the addition of active vitamin D metabolites, as is recommended in hypophosphatemic vitamin D resistant rickets, could cause deterioration in the patient's condition.
Asunto(s)
Calcio/orina , Hipofosfatemia Familiar/genética , Raquitismo/genética , Adolescente , Niño , Femenino , Humanos , Hipofosfatemia Familiar/complicaciones , Hipofosfatemia Familiar/tratamiento farmacológico , Masculino , Osteomalacia/complicaciones , Osteomalacia/tratamiento farmacológico , Osteomalacia/genética , Linaje , Fosfatos/uso terapéutico , Raquitismo/complicaciones , Raquitismo/tratamiento farmacológicoAsunto(s)
Encondromatosis/patología , Enfermedades de la Columna Vertebral/patología , Antropometría , Estatura , Niño , Diagnóstico Diferencial , Encondromatosis/diagnóstico , Encondromatosis/genética , Humanos , Masculino , Linaje , Fenotipo , Enfermedades de la Columna Vertebral/diagnóstico , Enfermedades de la Columna Vertebral/genéticaRESUMEN
We characterized the bone disease of transilial biopsy specimens from children with hereditary hypophosphatemic rickets with hypercalciuria (HHRH) and genetically related asymptomatic hypercalciuric subjects. All HHRH patients showed irregular mineralization fronts, markedly elevated osteoid surface and seam width, increased number of osteoid lamellae, and prolonged mineralization lag time. These findings are consistent with a mineralization defect and indicate unambiguously that the bone disease in HHRH is osteomalacia. The only abnormality seen in the asymptomatic hypercalciuric subjects was slightly extended osteoid surface. Parametric and nonparametric statistical analyses performed on a pooled sample of HHRH patients and asymptomatic hypercalciuric subjects revealed a very high inverse correlation and a tight linear relationship between serum phosphorus and osteoid parameters. Serum 1,25-dihydroxyvitamin D, which is low in other forms of hereditary hypophosphatemia and osteomalacia, is elevated in HHRH and correlated positively with osteoid parameters and the mineralization lag time. Serum alkaline phosphatase showed similar relationships. These results as well as the clinical, biochemical, and radiological remission of bone disease consequent to phosphate therapy strongly suggest that in HHRH 1) hypophosphatemia alone is sufficient to cause osteomalacia; and 2) the elevation of 1,25-dihydroxyvitamin D reflects the degree of the primary renal phosphate leak, but is not involved in the pathogenesis of the bone disease.
Asunto(s)
Huesos/patología , Calcio/orina , Osteomalacia/patología , Fosfatos/sangre , Raquitismo/genética , Absorción , Adolescente , Fosfatasa Alcalina/sangre , Calcificación Fisiológica , Calcitriol/sangre , Calcio/sangre , Niño , Preescolar , Femenino , Tasa de Filtración Glomerular , Humanos , Túbulos Renales/metabolismo , Masculino , Osteoblastos/patología , Osteoclastos/patología , Osteomalacia/complicaciones , Osteomalacia/fisiopatología , Fósforo/sangre , Fósforo/metabolismo , Raquitismo/complicaciones , Raquitismo/patología , SíndromeRESUMEN
The effects of different treatment regimens and the influence of parental height on the statural growth of 40 patients with hereditary vitamin D-resistant hypophosphatemic rickets were investigated. Three treatment regimens, each with oral phosphate, were used: vitamin D (0.5 to 2 mg/day), calcidiol (50 to 200 micrograms/day), and 1 alpha-hydroxyvitamin D3 (1 to 3 micrograms/day). Mean duration of follow-up was 9.5 +/- 5.1 years. The results show that (1) there was no acceleration of growth before puberty for the majority of children treated with vitamin D (12/16) or calcidiol (13/15), whereas 1 alpha-hydroxyvitamin D3 promoted catch-up growth in 10 of 16 patients; (2) height gain during puberty was normal, irrespective of the treatment; (3) most vitamin D-treated male and female subjects and calcidiol-treated male subjects had short adult stature, but the majority (75%) of the 1 alpha-hydroxyvitamin D3-treated groups had normal stature; (4) parental stature had little influence on the adult height of male subjects, but that of affected girls was positively correlated (p less than 0.002) with mid-parental height. These results demonstrate that 1 alpha-hydroxyvitamin D3 is superior to vitamin D or calcidiol for improvement of stature of patients with hypophosphatemic vitamin D-resistant rickets, and indicate the importance of parental height in determining the adult height of affected girls.
Asunto(s)
Crecimiento/fisiología , Hipofosfatemia Familiar/tratamiento farmacológico , Estatura , Preescolar , Colecalciferol/uso terapéutico , Ergocalciferoles/uso terapéutico , Femenino , Crecimiento/efectos de los fármacos , Humanos , Hipercalcemia/inducido químicamente , Hipofosfatemia Familiar/fisiopatología , Masculino , Hormona Paratiroidea/sangre , Padres , Fosfatos/uso terapéutico , Fósforo/sangre , Pubertad/fisiología , Estudios Retrospectivos , Vitamina D/efectos adversos , Vitamina D/uso terapéuticoRESUMEN
A family is presented with three affected siblings suffering from a rare form of spondyloepiphyseal dysplasia with progressive arthropathy affecting most joints of the body except for the craniofacial skeleton. This syndrome, probably of autosomal recessive inheritance, clinically presents diffuse and chronic joint involvement and should be differentiated from juvenile rheumatoid arthritis and other rheumatic disorders.
Asunto(s)
Artritis Juvenil/diagnóstico por imagen , Osteocondrodisplasias/diagnóstico por imagen , Adolescente , Adulto , Artritis Juvenil/genética , Preescolar , Diagnóstico Diferencial , Femenino , Humanos , Masculino , Osteocondrodisplasias/genética , Linaje , RadiografíaRESUMEN
Of 91 children with idiopathic persistent or recurrent haematuria, eight also had hypercalciuria. This was transient in three and persistent in five. Persistent hypercalciuria was a rare cause of microscopic haematuria (two of 80), but common in association with gross haematuria (three of 11).
Asunto(s)
Calcio/orina , Hematuria/etiología , Adolescente , Niño , Preescolar , Humanos , RecurrenciaRESUMEN
Uremic granulocyte chemotaxis was assessed in the presence of four different concentrations of levamisole. Chemotactic responsiveness of uremic granulocytes was significantly decreased compared to normal, both in the absence of levamisole and with all levamisole concentrations tested. However, with 10(-3) and 10(-4) M levamisole concentrations, uremic granulocyte chemotaxis was similar to that of normal granulocytes without levamisole. Defective chemotactic activity of granulocytes may play a role in the increased susceptibility of uremic patients to infections. Pharmacological correction of this defect may improve the patients' ability to cope with infections.
Asunto(s)
Quimiotaxis de Leucocito/efectos de los fármacos , Fallo Renal Crónico/complicaciones , Levamisol/farmacología , Uremia/metabolismo , Adulto , Anciano , Anciano de 80 o más Años , Femenino , Granulocitos/efectos de los fármacos , Humanos , Masculino , Persona de Mediana Edad , Uremia/etiologíaRESUMEN
1,25-Dihydroxyvitamin D3 (DHD) has been shown to suppress mitogen-induced blast transformation. This inhibition is abolished by prior elimination of adherent cells. Chronic renal failure is an immunodeficiency state on the one hand and is associated with abnormalities in vitamin D metabolism on the other. The effect of DHD on the induction of suppressor cells in uremic vs. normal peripheral blood mononuclear cells was investigated. Study groups included 16 chronically uremic patients and 16 age- and sex-matched controls. DHD induced suppressor cell activity in normal lymphocytes. However, no suppressor cell activity was observed in lymphocytes from the uremic patients preincubated with DHD. The origin of the responder cells (normal or uremic) did not affect the outcome. The results would suggest that monocyte-adherent suppressor cells from uremic subjects are either incapable of binding DHD or fail to mount a normal post-receptor intracellular chain of events culminating in suppressor activity.
Asunto(s)
Calcitriol/farmacología , Linfocitos T Reguladores/efectos de los fármacos , Uremia/sangre , Adulto , Femenino , Humanos , Activación de Linfocitos/efectos de los fármacos , Masculino , Persona de Mediana EdadRESUMEN
Among 59 closely related members of one Bedouin tribe, we identified 9 who had the characteristic features of hereditary hypophosphatemic rickets with hypercalciuria (HHRH). We found "idiopathic" hypercalciuria in 21 of the 50 asymptomatic members. The biochemical abnormalities observed in these 21 subjects were qualitatively similar to those in the 9 with HHRH, but were quantitatively milder. The urinary calcium concentration was 0.43 +/- 0.14 mg per milligram of creatinine (mean +/- SD) in the patients with HHRH, 0.34 +/- 0.07 in the subjects with idiopathic hypercalciuria, and 0.14 +/- 0.05 in normal subjects from the same tribe. Tubular reabsorption of phosphorus and serum phosphorus concentrations were 3.0 and 4.3 SD units below the age-related mean, respectively, in HHRH, and 1.1 SD units below the normal mean for both variables in idiopathic hypercalciuria. Mean serum levels of 1,25-dihydroxyvitamin D (1,25-(OH)2D) were 303 pg per milliliter in HHRH and 145 pg per milliliter in idiopathic hypercalciuria (upper normal limit, 110). We conclude that the subjects with hypercalciuria and the patients with HHRH shared a hereditary renal phosphate leak that led to hypophosphatemia, elevated serum concentrations of 1,25-(OH)2D, increased intestinal calcium absorption, and hypercalciuria. The magnitude of the hypophosphatemia, which regulates 1,25-(OH)2D levels, appears to determine which subjects will have hypercalciuria alone and which will also have bone disease.
Asunto(s)
Trastornos del Metabolismo del Calcio/genética , Calcio/orina , Hipofosfatemia Familiar/genética , Raquitismo/genética , Adolescente , Adulto , Anciano , Calcitriol/metabolismo , Niño , Preescolar , Femenino , Humanos , Masculino , Persona de Mediana Edad , Fósforo/metabolismoRESUMEN
Pneumaturia, an air-filled urinary bladder with or without passage of gas in the urine, is a rare phenomenon in the general population, but is more frequent in defined high-risk subgroups. Relevant symptomatology may be hardly noticeable for a relatively long period; however, the outcome may be serious and sometimes fatal. We present three such cases and discuss diagnostic and therapeutic aspects.
Asunto(s)
Enfermedades de la Vejiga Urinaria/diagnóstico , Fístula de la Vejiga Urinaria/diagnóstico , Adulto , Anciano , Antibacterianos/uso terapéutico , Carbón Orgánico/orina , Femenino , Gases , Humanos , Masculino , Persona de Mediana Edad , Radiografía , Riesgo , Ultrasonografía , Enfermedades Uretrales/inducido químicamente , Enfermedades de la Vejiga Urinaria/diagnóstico por imagen , Enfermedades de la Vejiga Urinaria/tratamiento farmacológico , Enfermedades de la Vejiga Urinaria/fisiopatología , Fístula de la Vejiga Urinaria/tratamiento farmacológico , Fístula de la Vejiga Urinaria/fisiopatologíaRESUMEN
Sera of patients on chronic hemodialysis induced suppressor cell activity (SCA) in normal peripheral blood mononuclear cells, which significantly impaired blastogenic response to PHA. This SCA is statistically not different from Con A induced SCA. Both SCAs are however additive. Speculations concerning the modes of action of this induced SCA are discussed.