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Hormone Research in Paediatrics 2022Rickets was a major public health problem dating from Roman times, and medical descriptions of rickets date from the 17th century. Sniadecki first advocated treatment by... (Review)
Review
Rickets was a major public health problem dating from Roman times, and medical descriptions of rickets date from the 17th century. Sniadecki first advocated treatment by exposure to sunshine in 1822; contemporaneously, several British physicians advocated use of cod liver oil. Both approaches were successful. Work in 1924 showed that exposure to UV light endowed fats and other foods with antirachitic properties. Vitamins D2 and D3, the antirachitic agent in cod liver oil, were, respectively, produced by UV radiation of ergosterol and 7-dehydrocholesterol. Calcitriol (1,25[OH]2D3) was identified as the biologically active form of vitamin D in the early 1970s. The vitamin D 25-hydroxylase, 24-hydroxylase, and 1α-hydroxylase were cloned in the 1990s and their genetic defects were soon delineated. The vitamin D receptor was also cloned and its mutations identified in vitamin D-resistant rickets. Work with parathyroid hormone (PTH) began much later, as the parathyroids were not identified until the late 19th century. In 1925, James B. Collip (of insulin fame) identified PTH by its ability to correct tetany in parathyroidectomized dogs, but only in the 1970s was it clear that only a small fragment of PTH conveyed its activity. Congenital hypoparathyroidism with immune defects was described in 1968, eventually linked to microdeletions in chromosome 22q11.2. X-linked hypophosphatemic rickets was reported in 1957, and genetic linkage analysis identified the causative PHEX gene in 1997. Autosomal dominant hypophosphatemic rickets similarly led to the discovery of FGF23, a phosphate-wasting humoral factor made in bone, in 2000, revolutionizing our understanding of phosphorus metabolism.
Topics: Animals; Dogs; Humans; Cod Liver Oil; Familial Hypophosphatemic Rickets; Parathyroid Hormone; Rickets; Vitamin D; Vitamins
PubMed: 36446330
DOI: 10.1159/000527011 -
Indian Journal of Human Genetics Jul 2013Congenital hypoparathyroidism, growth retardation and facial dysmorphism is a rare autosomal recessive disorder seen among children born to consanguineous couple of Arab...
Congenital hypoparathyroidism, growth retardation and facial dysmorphism is a rare autosomal recessive disorder seen among children born to consanguineous couple of Arab ethnicity. This syndrome is commonly known as Sanjad-Sakati or hypoparathyroidism-retardation-dysmorphism syndrome (HRD). We report 13-year-old Hindu boy with hypoparathyroidism, tetany, facial dysmorphism and developmental delay, compatible with HRD syndrome.
PubMed: 24339556
DOI: 10.4103/0971-6866.120814 -
California Medicine Sep 1949Because of the variable and vague clinical symptoms of the disease, diagnosis of hyperparathyroidism may be missed or delayed.Presenting symptoms and findings may be...
Because of the variable and vague clinical symptoms of the disease, diagnosis of hyperparathyroidism may be missed or delayed.Presenting symptoms and findings may be localized to the urological system or to the skeletal framework, with indications of abnormal blood calcium levels.In any case in which the patient's only complaints are malaise, lassitude, or progressive weakness, and in which routine laboratory findings are inconclusive, the blood calcium level should be determined. While not in itself diagnostic, a high level of calcium in the blood will lead to further investigation such as skeletal x-ray studies and blood phosphorus and serum alkaline phosphatase determinations. Vigilance postoperatively to forestall tetany is of great importance.
Topics: Humans; Hyperparathyroidism; Parathyroid Diseases; Tetany
PubMed: 18137218
DOI: No ID Found -
Cureus Aug 2021Subacute-onset muscle weakness can result from channelopathies, inflammatory myopathies, thyroid dysfunction, hypoparathyroidism, vitamin D deficiency, and...
Subacute-onset muscle weakness can result from channelopathies, inflammatory myopathies, thyroid dysfunction, hypoparathyroidism, vitamin D deficiency, and dyselectrolytemias like hypokalemia, hypocalcemia, and hypomagnesemia. We report a curious and extremely rare case of a 29-year-old woman with hyperemesis gravidarum presenting with disabling muscle weakness involving her lower limbs and trunk, and concurrent features of tetany. Following voluminous vomiting over the last two months, she presented with history of weakness of her lower limbs of 14 days duration, resulting in difficulty in her getting out of bed or walking unassisted. On examination, she was hypotensive (80/60 mmHg) and tachycardic (110 bpm), with flaccid weakness of her lower limbs (proximal weakness more than distal weakness - power of 1/5 at the hips bilaterally, and 3/5 at the knees and ankles bilaterally) and diminished deep tendon reflexes. She also had positive Trousseau's sign and Chvostek's sign. Interestingly, she also had thinned-out bluish sclerae, a high-arched palate, short stature, and bilateral conductive hearing loss. Laboratory evaluation revealed anemia, hyponatremia, hypokalemia, hypomagnesemia, hypochloremia, hypophosphatemia, and low vitamin D levels. Electrocardiogram showed prolonged QT interval. Her thyroid function test and parathyroid levels were normal. With parenteral replenishment of the electrolytes and vitamin D, her power improved and she was discharged on oral supplements. Thus, this case report demonstrates the importance of aggressive, early, and adequate management of hyperemesis gravidarum to prevent dyselectrolytemia-associated paraparesis.
PubMed: 34522495
DOI: 10.7759/cureus.17014 -
Archives of Disease in Childhood Oct 1971The clinical, biochemical, and pathological findings in 2 children with idiopathic rhabdomyolysis are reported. Hypocalcaemic tetany, a previously unrecognized... (Review)
Review
The clinical, biochemical, and pathological findings in 2 children with idiopathic rhabdomyolysis are reported. Hypocalcaemic tetany, a previously unrecognized complication of severe muscle damage, was seen in one child and was associated with hyperphosphataemia and hyperphosphaturia consequent on the rhabdomyolysis. Respiratory distress and an acute tubular necrosis contributed to her eventual death. The second child recovered; an intracellulr granular material of unknown nature was seen in his muscle biopsy on electron microscopy. The literature of idiopathic recurrent rhabdomyolysis occurring in childhood is reviewed.
Topics: Acute Kidney Injury; Adolescent; Adult; Child; Child, Preschool; Diarrhea; Female; Fibrin; Humans; Hypocalcemia; Infant; Infant, Newborn; Kidney; Kidney Tubules; Male; Microscopy, Electron; Muscles; Muscular Diseases; Myofibrils; Myoglobinuria; Necrosis; Phosphorus; Respiratory Distress Syndrome, Newborn; Respiratory Tract Infections; Staining and Labeling; Tetany; Thrombosis
PubMed: 4107384
DOI: 10.1136/adc.46.249.594 -
Clinical Medicine (London, England) Jun 2012
Topics: Calcium; Female; Humans; Tetany
PubMed: 22783789
DOI: 10.7861/clinmedicine.12-3-298 -
Journal of Clinical and Diagnostic... Aug 2017Meropenam, a beta-lactam antibiotic has been used for severe infections of skin, tissue, intra- abdominal and urogenital infections in hospitalized patients. The common...
Meropenam, a beta-lactam antibiotic has been used for severe infections of skin, tissue, intra- abdominal and urogenital infections in hospitalized patients. The common adverse effects reported are diarrhoea, vomiting, rashes and hypersensitivity reactions. Here we report two cases of meropenam induced hypokalemia, wherein, meropenam was prescribed for cellulitis and urinary tract infection in the first and second case respectively. Hypokalemia can manifest as muscular weakness, fatigue, muscle cramps, constipation, ileus, flaccid paralysis, hyporeflexia, hypercapnia, tetany, rhabdomyolysis or respiratory failure. Hence, it is necessary to make physicians aware of such an adverse effect which can develop with meropenam.
PubMed: 28969183
DOI: 10.7860/JCDR/2017/27584.10387