Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0086543 (cataract)
 29,165 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

For assessing the risk of adverse complications of surgery the group of 130 patients with post-operational hypoparathyroidism was analysed. Surgical hypoparathyroidism has been diagnosed in 51% of operated on thyroid gland patients. Laryngeal nerves have been damaged in 46.6% of patients. The injury to laryngeal nerves has been irreversible in 2/3 of patients, and reversible in the remaining 1/3. Cataract, nephrolithiasis and vitamin D3 intoxication have been observed in some cases before surgery. Their incidence increased in severe surgical hypoparathyroidism. Osteoporosis of the spine has been diagnosed in 49% of patients including some with vertebral fractures. No correlation between the degree of spine osteoporosis and diagnosis before surgery, number of operations on thyroid gland, and type of therapy has been noted. The symptoms of hypercalcemia have been diagnosed in 5 patients out of which hypercalcemia has been transient in 2 patients, and lasted for 1-5 months in the remaining 3 patients. The results of 7,873 analyses of mineral metabolism have been assessed. Hypocalcemia has been found in 38.4%, hypercalcemia in 1.6%, hypomagnesemia in 25.7%, hyperphosphatemia in 41.5%, decreased alkaline phosphatase serum activity in 28.7%, and hypercalciuria in 22.4% of cases. Surgical hypoparathyroidism is frequently accompanied by surgical hypothyroidism and injury to the recurrent laryngeal nerves.
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PMID:[Postoperative hypoparathyroidism: risk of complications]. 166 68

We report 10 patients with primary hypoparathyroidism. Age at onset varied from 7 months to 52 years (mean 28); 7 were female. Diagnosis was established at a mean of 4.1 years after the appearance of clinical manifestations. Unexplained hypocalcemia (mean 5.3 mg/dl) and hyperphosphatemia (mean 6.4 mg/dl) were present in all patients. Prevalent symptoms included tetany (9 patients), seizures (5) and hypocalcemic cataracts (4). Clinical manifestations may be grouped into 5 types 1) tetany; 2) seizures; 3) other neurologic disorders (basal ganglia calcification, pseudotumor of the brain, ataxia, nystagmus, hypertonus, paresis); 4) disorders of the lens including fully developed cataracts and 5) skin alterations like psoriasis and others. Some of these run on acute course (seizures, tetany), others a subacute one (skin alterations) while others are rather chronic (cataract and other neurologic disorders). Seizures and electroencephalographic disorders predominate in younger patients while tetany is more prevalent in older subjects.
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PMID:[Idiopathic hypoparathyroidism, a syndrome with various clinical expressions: analysis of 10 cases]. 251 14

Vitamin D3 in the presence of calcium lactate induced significant hypercalcemia and hyperphosphatemia while calcitonin in the presence of a chelating agent (EGTA) induced hypocalcemia and hypophosphatemia in the rat lens. The physiologic significance of these changes in relation to cataract formation was understood by correlating the ratio of calcium and phosphate in the rat lens with the similar ratio obtained from human cataractous lenses of cortical and nuclear types.
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PMID:Vitamin D3 and calcitonin-induced regulation of calcium and phosphate in rat lens--its significance in cataract formation. 254 57

A 3 years old boy was admitted due to recurrent attacks of tetany and carpopedal spasm since one and a half years of age. The tetany lasting for 1-2 minutes in each episode was often preceded by an upper respiratory tract infection and occurred 2-3 times a month. Both birth and family history were unremarkable. Physical findings showed mild psychomotor retardation with positive Chvostek sign. Laboratory examination revealed hypocalcemia, hyperphosphatemia, and low serum parathyroid hormone level. EEG showed abnormal tracing with increased slow waves. Head CT Scan demonstrated symmetrical calcification in the basal ganglia region. The clinical features and laboratory findings were consistent with hypoparathyroidism. The mechanism of calcium deposit in the basal ganglia still remains unclear. Tetany, muscle cramping and seizures secondary to hypocalcemia are the most common neurologic signs which respond quickly to calcium replacement. Subsequent supplemental therapy resolved movement disorders and mental retardation. If early treatment prior to the tetanic episodes is instituted in a patient with hypoparathyroidism, it may prevent the development of complications such as intracranial calcifications, cataract and permanent retardation.
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PMID:[Primary hypoparathyroidism with basal ganglia calcification: report of a case]. 263 91

Fifteen dogs with primary hypoparathyroidism diagnosed at the University of California Veterinary Medical Teaching Hospital were compared with 13 previously reported cases. Age, sex, breed, and historical and physical findings were similar in both groups of dogs. Middle-aged females were affected primarily. A history of neurologic or neuromuscular disease was present in all 28 dogs, with 18 dogs having seizures. Posterior lenticular cataract formation secondary to hypocalcemia was suspected in six dogs. The most characteristic biochemical finding in all dogs was profound hypocalcemia (less than 6.5 mg/dl) and mild hyperphosphatemia. Serum magnesium concentrations were decreased in two dogs. Serum parathyroid hormone concentrations were consistent with the diagnosis of primary hypoparathyroidism in eight of nine dogs. Lymphocytic parathyroiditis was diagnosed in the 12 dogs from which tissue was submitted for histopathology. Successful management of the patient depended on frequent monitoring of the serum calcium concentration during initial and maintenance therapy.
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PMID:Primary hypoparathyroidism in the dog. Report of 15 cases and review of 13 previously reported cases. 306 94

Supplementation of cyanate in rats caused a significant decrease in serum GSH and increase in calcium and phosphate level both in serum and lens. Consequently, these changes led to induce acidosis uremia in serum and hypercalcemia and hyperphosphatemia in lens which may be possible causing factor for cataract.
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PMID:In vivo effect of cyanate on serum and eye lens in rat. 850 Aug 20

The extracellular calcium-sensing receptor (CaSR) plays a pivotal role in the regulation of extracellular calcium such that abnormalities, which result in a loss or gain of function, lead to hypercalcemia or hypocalcemia, respectively, in patients. Mice carrying CaSR knockout alleles develop hypercalcemia that mimics the disorders observed in humans. To date, there is no mouse model for an activating CaSR mutation. Here, we describe such a mouse model, named Nuf, originally identified for having opaque flecks in the nucleus of the lens in a screen for eye mutants. Nuf mice also display ectopic calcification, hypocalcemia, hyperphosphatemia, and inappropriately reduced levels of plasma parathyroid hormone. These features are similar to those observed in patients with autosomal dominant hypocalcemia. Inheritance studies of Nuf mice revealed that the trait was transmitted in an autosomal-dominant manner, and mapping studies located the locus to chromosome 16, in the vicinity of the CaSR gene (Mouse Genome Database symbol Gprc2a). DNA sequence analysis revealed the presence of a Gprc2a missense mutation, Leu723Gln. Transient expression of wild-type and mutant CaSRs in human embryonic kidney 293 cells demonstrated that the mutation resulted in a gain of function of the CaSR, which had a significantly lower EC(50). Thus, our results have identified a mouse model for an activating CaSR mutation, and the development of ectopic calcification and cataract formation, which tended to be milder in the heterozygote Nuf mice, indicates that an evaluation for such abnormalities in autosomal dominant hypocalcemia patients who have activating CaSR mutations is required.
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PMID:Activating calcium-sensing receptor mutation in the mouse is associated with cataracts and ectopic calcification. 1534 4

Hypoparathyroidism is a result of reduced secretion or impaired action of parathyroid hormone (PTH). Although considered a rare condition, hypoparathyroidism seems to occur much more frequently than reported. In most cases, hypoparathyroidism remains a complication of neck surgery. However, there is a growing incidence of the autoimmune form of hypoparathyroidism, which may occur in combination with other autoimmune diseases. As parathyroid glands are necessary to sustain life and maintain homeostasis, undetected or misdiagnosed hypoparathyroidism may pose a significant threat to health outcomes, as its presence may increase morbidity and mortality in affected individuals. The clinical consequences of PTH deficiency or impaired receptor action are multidirectional and include nervous hyperexcitability, paresthesias, cramps, tetany, hyperreflexia, convulsions, cataract, weakened tooth enamel, brittle nails and basal ganglia calcifications. In some patients, however, its manifestation may be non-specific, and in these cases the correct diagnosis may be easily missed. Laboratory measurements show hypocalcemia, hyperphosphatemia, and, with the exception of pseudohypoparathyroidism, inappropriately low or undetectable PTH levels. Treatment consists of oral calcium supplementation and vitamin D derivatives. In this review article, we discuss the causes, clinical picture, diagnosis and treatment of hypoparathyroidism and provide the reader with some practical guidance concerning dealing with a patient suffering from this disorder.
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PMID:[Hypoparathyroidism: the present state of art]. 2390 24