Uveítis anterior aguda asociada a raquitismo renal hipofosfatémico / Acute anterior uveítis associated to hypophosphatemic renal ricketts

Los raquitismos hipofosfatémicos hereditarios son un grupo de enfermedades caracterizadas por la pérdida renal de fosfatos. Cursan con hipocrecimiento disarmónico y deformidades óseas. La forma más común es el raquitismo hipofosfatémico ligado al cromosoma X, el cual es causado por mutaciones inactivantes en el gen PHEX. El objetivo de nuestro trabajo fue describir las alteraciones oculares encontradas y la evolución clínica en un paciente con raquitismo hipofosfatémico hereditario y uveítis anterior. Se presenta un niño de 9 años de edad con diagnóstico de raquitismo hipofosfatémico hereditario, valorado en el Servicio de Uveítis del Instituto Cubano de Oftalmología Ramón Pando Ferrer por presentar dolor ocular y molestias a la luz en el ojo derecho. En la exploración oftalmológica se constata una uveítis anterior con hipopión en el ojo derecho y depósitos de cristales en todo el espesor corneal y el iris en ambos ojos. Se indicaron esteroides tópicos con resolución del proceso inflamatorio. Los hallazgos en el segmento anterior del paciente son sugestivos de cistinosis, donde el acúmulo de cristales es la alteración corneal más típica de las manifestaciones oculares, con una incidencia del 90 por ciento en niños menores de un año, y los primeros órganos afectados son los riñones. Los raquitismos hipofosfatémicos hereditarios pueden cursar con depósitos de cristales corneales y procesos inflamatorios de la úvea anterior(AU)

Hereditary hypophosphatemic rickets are a group of diseases characterized by renal loss of phosphates. They appear with disharmonic hypogrowth and bone deformities. The most common form is the X-chromosome-linked hypophosphatemic rickets which is caused by inactivating mutations in PHEX gene. The objective of our work was to describe the ocular alterations and the clinical evolution in a patient with hereditary hypophosphatemic rickets and previous uveitis. Here is the case of a 9 years-old boy diagnosed with hereditary hypophosphatemic rickets, who was seen at the Uveitis Service of Ramon Pando Ferrer Cuban Institute of Ophthalmology. He presented with ocular pain and feeling of discomfort to light in his right eye. The ophthalmological exam yielded anterior uveitis with hypopyon in his right eye and crystal depots in the whole corneal thickness and the iris of both eyes. Topical steroids were prescribed to treat the inflammatory process. The findings in the anterior segment of the patients indicated the presence of cystinosis in which the accumulation of crystals is the most typical corneal alteration among the ocular manifestations. Its incidence reaches 90 percent in under one year-old children and the first affected organs are the kidneys. The hereditary hypophosphatemic rickets may appear with corneal crystal depots and inflammatory processes in the anterior uvea(AU)

Hepatic osteodystrophy

The reported prevalence of osteoporosis among patients with cirrhosis ranges from 20-50%. Prevalence of fractures ranges from 5-20%. Potential inciting factors include insulin growth factor-I [IGF-I] deficiency, hyperbilirubinemia, hypogonadism, alcoholism, excess tissue iron deposition, subnormal vitamin D levels, vitamin D receptor genotype and osteprotegerin deficiency. Furthermore, medications, such as corticosteroids and the antiviral agents; interferon and ribavirin may affect bone metabolism. The classical biochemical changes of osteomalacia are hypocalcaemia, hypophosphataemia, increased parathyroid hormone, and elevated bone alkaline phosphatase although serum calcium and phosphate are often normal. The intestinal absorption of cholecalciferol and 25-hydroxycholecalciferol is affected only in the presence of severe cholestasis, at which time patients are jaundiced. Subsequent hepatic 25-hydroxylation of vitamin D3 has not been studied in humans, but in cirrhotic rats, this process is not impaired. Accordingly osteomalacia is very rare in chronic liver disease [CLD]. Preventive measures for osteoporosis and osteomalacia that address inciting factors should be implemented in all children with CLD. Treatment with bisphosphonates should be reserved for those who have sustained osteoporotic fractures

Aetiology and clinical profile of osteomalacia in adolescent girls in northern India.

BACKGROUND: The adolescent age group is particularly prone to nutritional rickets/osteomalacia due to an increased demand for nutrients, especially calcium and vitamin D. Osteomalacia presents with non-specific signs and symptoms because of which diagnosis may be delayed. Vitamin D deficiency is unexpected in India, which is a tropical country with abundant sunshine. METHODS: We prospectively studied the clinical presentation, aetiology and social factors contributing to adolescent rickets/ osteomalacia in our region. RESULTS: We saw 21 symptomatic adolescents with osteomalacia during the study period (November 2000-July 2002). All were girls. Only 1 practised purda and 4 belonged to a low socioeconomic class. The mean (SD) duration of illness before correct diagnosis was 2.8 (2.1) years. Bone pains and muscular weakness were universally present. Non-specific complaints (especially limb pains being mistaken for joint involvement) led to a delay in diagnosis with consequent morbidity. All but 1 patient had low serum 25-hydroxyvitamin D levels (<10 ng/ml), with the mean (SD) being 4.9 (2.7) ng/ml. Their mean dietary calcium intake was low 1265 (199) mg/day, range 40-810 mg/day]. Restricted outdoor activities (n = 19) and the traditional dress code (n = 21) were contributory factors, as they led to poor exposure to sunshine. CONCLUSIONS: Nutritional osteomalacia among adolescents is a poorly recognized entity. Even in non-purda practising communities in the tropics, poor exposure to sunshine due to social factors, compounded by low dietary calcium intake, can lead to osteomalacia in adolescents.