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Query: UMLS:C0024523 (malabsorption)
 7,319 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

To define the clinical picture and course of the autosomal recessive disease called autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED), we report data from our 10-month to 31-year follow-up of 68 patients from 54 families, now 10 months to 53 years of age. The clinical manifestations varied greatly and included from one to eight disease components, 63 percent of the patients having three to five of them. The initial manifestation was oral candidiasis in 41 patients (60 percent), intestinal malabsorption in 6 (9 percent), and keratopathy in 2 (3 percent). All the patients had candidiasis at some time. The earliest endocrine component appeared at 19 months to 35 years of age. Hypoparathyroidism was present in 54 patients (79 percent), adrenocortical failure in 49 (72 percent), and gonadal failure in 15 (60 percent) of the female patients greater than or equal to 13 years of age and 4 (14 percent) of the male patients greater than or equal to 16 years of age. There were multiple endocrine deficiencies in half the patients. From 4 to 29 percent of the patients had periodic malabsorption, gastric parietal-cell atrophy, hepatitis, alopecia, vitiligo, or a combination of these conditions. Dental-enamel hypoplasia and keratopathy were also frequent but were not attributable to hypoparathyroidism. In the patients whose initial manifestation (other than candidiasis) was adrenal failure, the other components developed less often than in the remaining patients. We conclude that the clinical spectrum in patients with APECED is broad. The majority of patients have three to five manifestations, some of which may not appear until the fifth decade. Therefore, all patients need lifelong follow-up for the detection of new components of the disease.
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PMID:Clinical variation of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) in a series of 68 patients. 234 35

There are two sources of vitamin D available to man: The more important source is the cholecalciferol (vitamin D3), which is produced photochemically in the skin from the provitamin, 7-dehydrocholesterol; vitamin D ingested with food is of secondary importance, but assumes a critical role when an individual is deprived of solar exposure. Vitamin D therefore is not strictly a vitamin. A deficiency of vitamin D ultimately results in osteomalacia in adults and rickets in children, and provision of sunlight or small oral doses of the vitamin can cure this bone condition. There are, however, many less common conditions in which small doses of the vitamin are ineffective, whereas larger doses of vitamin D can achieve healing of the bone disease. These conditions are collectively called vitamin D-resistant diseases and include hypoparathyroidism, genetic and acquired hypophosphataemic osteomalacias, renal osteodystrophy, vitamin D-dependent rickets, and the osteomalacia associated with liver disease and intestinal malabsorption. Unfortunately, large doses of vitamin D continue to be prescribed for a wide variety of diseases in which there is little scientific evidence of their efficacy. The benefits and dangers of high doses of vitamin D are discussed and the problems arising from inappropriate or poorly supervised treatment with vitamin D presented. The serum concentration of the active metabolite of vitamin D, 1,25 dihydroxyvitamin D is increased in certain disease states, and the pathophysiology of some these diseases are presented. The exciting developments in tumour differentiation and the role of high doses of 1,25 dihydroxyvitamin D for the control of leukaemia and other blood and skin diseases are discussed.
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PMID:High-dose vitamin D therapy: indications, benefits and hazards. 250 9

A 68-year-old man presenting with chronic intermittent diarrhea and progressive ataxia was found to have idiopathic hypoparathyroidism. Intrinsic factor-resistant vitamin B(12) malabsorption was demonstrated. Both the diarrhea and vitamin malabsorption were reversed by correction of hypocalcemia.His neurological profile was a combination of peripheral nerve, posterior column and cerebellar deficits. He had calcifications in the dentate nuclei of the cerebellum. Possible etiological factors such as vitamin B(12) deficiency, folic acid deficiency and steatorrhea have been excluded. Posterior column and cerebellar abnormalities improved with treatment. It is postulated that hypocalcemia causes functional, reversible spinal cord and cerebellar dysfunction.
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PMID:Idiopathic hypoparathyroidism with impaired vitamin B 12 absorption and neuropathy. 433 89

The role of magnesium in the constitution, metabolism and hormonal control of bone tissue can be deducted from what is known of its physiology. Magnesium deficiency may result in vitamin-D resistant hypocalcaemia or even biochemical signs of hypoparathyroidism, which only regress after the deficiency is corrected. Measurements of magnesium levels in blood and urine are justified when such abnormalities occur in patients with digestive disorders, predominantly alcoholism, liver diseases or malabsorption. In all other circumstances, magnesium therapy is very rarely indicated for osteo-articular diseases.
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PMID:[Physiology and main implications of magnesium in osteo-articular pathology]. 622

Elucidation of the vitamin D endocrine system and the availability of potent metabolites have led to new approaches to vitamin D therapy. The traditional management of exogenous (sunlight) or endogenous (malabsorption) vitamin D deficiency without evidence of disordered vitamin D metabolism has not changed, since it consists of treatment with vitamin D itself--a therapy which preserves the normal intrinsic mechanisms for regulating the rate of production of 1,25-dihydroxycholecalciferol. 1,25-DHCC and the analogue compound 1 alpha-CC should be reserved for treatment of hypocalcemia consequent on chronic renal failure or hypoparathyroidism, where 1-hydroxylation is lacking or impaired. Hypophosphatemic rickets has been treated with 1-hydroxylated compounds, with promising results; this use of the latter metabolites warrants further investigation. The use of vitamin D metabolites and of pharmacological doses of vitamin D itself must be regarded as substitution of a hormone or hormone precursors. Therefore, careful monitoring of serum and urine calcium is required in every patient receiving these compounds, in order to avoid excessive dosage. Special attention must be paid to patients with sarcoidosis since they often develop hypercalcemia after vitamin D or UV-light exposure, as a result of an intrinsic regulation defect in 1,25-DHCC synthesis.
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PMID:[Therapy with vitamin D and D-metabolites]. 626 26

Hypocalcemia occurs in patients with psoriasis vulgaris, pustular psoriasis of von Zumbusch, and impetigo herpetiformis. In most cases hypocalcemia is caused by accompanying hypoalbuminemia, yet reductions in ionized serum calcium concentrations due to hypoparathyroidism or malabsorption have been reported. We report the case of a patient with surgical hypoparathyroidism in whom hypocalcemia precipitated typical pustular psoriasis of von Zumbusch. The psoriasis rapidly cleared on two occasions when the patient's serum calcium was corrected by therapy with oral calcium and vitamin D or its analogues, and reappeared when treatment was discontinued. The patient's psoriasis cleared on a third occasion when her serum calcium level returned to normal with a calcium infusion. Hypocalcemia can precipitate pustular psoriasis of von Zumbusch in susceptible persons. These psoriatic flares are due not to abnormal circulating levels of parathyroid hormone or vitamin D metabolites but to hypocalcemia.
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PMID:Hypocalcemia-induced pustular psoriasis of von Zumbusch. New experience with an old syndrome. 654 44

A review of 295 patients with autoimmune Addison's disease which occurred as part of a polyglandular autoimmune syndrome is presented. Information of 41 cases was obtained from our clinics and from the examination of medical records, while 254 cases were culled from the literature. We report that autoimmune Addison's disease in association with other autoimmune diseases occurs in at least two distinct types. Addison's disease occurring in Type I polyglandular autoimmune disease (PGA) is associated with chronic mucocutaneous candidiasis and/or acquired hypoparathyroidism. The age of onset is predominately in childhood or in the early adult years. Type I PGA syndrome is also frequently associated with chronic active hepatitis, malabsorption, juvenile onset pernicious anemia, alopecia and primary hypogonadism. Insulin requiring diabetes and/or autoimmune thyroid disease are infrequent. In contrast, Addison's disease in Type II PGA is associated with insulin requiring diabetes and/or autoimmune thyroid disease(s). Although the age of onset of Addison's disease in Type II PGA syndrome is not confined to any age group or any specific sex, it occurs predominately in the middle years of life in females. The associated autoimmune diseases found in Type I disease, such as chronic active hepatitis, etc. (see table II) are rare in Type II PGA disease except for a low frequency of gonadal failure. We provide evidence to support the concept that the Addison's diseases in Type I and II PGA syndromes have different genetic bases, as related to HLA haplotypes, and possibly have different underlying pathogeneses.
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PMID:Two types of autoimmune Addison's disease associated with different polyglandular autoimmune (PGA) syndromes. 702 19

Our study suggests that coexisting celiac sprue is one of the mechanisms responsible for the malabsorption associated with idiopathic hypoparathyroidism. Celiac sprue is relatively common, and this association could occur by coincidence. Alternately there may be shared determinants of susceptibility or perhaps a direct immunological relationship. In such patients, both gluten-free diet and correction of the hypoparathyroid state may be necessary to correct malabsorption. In our literature survey, this is the first case in which celiac sprue associated with idiopathic hypoparathyroidism was documented. The importance of intestinal biopsy in evaluating malabsorption in patients with idiopathic hypoparathyroidism is emphasized.
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PMID:Malabsorption with idiopathic hypoparathyroidism responding to treatment for coincident celiac sprue. 707 23

Juvenile autoimmune polyendocrinopathies are characterized by the coexistence of hypoparathyroidism, chronic candidiasis and adrenal insufficiency. This is in contrast with associated autoimmune endocrine diseases in the adult. Gonadal insufficiency is frequently encountered as well. Some other diseases can also be associated to these endocrinopathies: alopecia, diarrhea, malabsorption or chronic active hepatitis. The pathophysiological aspects of this syndrome are discussed.
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PMID:Juvenile autoimmune polyendocrinopathy. 717 23

The mechanisms of vitamin D deficiency already described are triggered off by a variety of causes. Confinement indoors leads to defective photosynthesis and dietary restrictions to insufficient intake. Malabsorption results from digestive tract diseases: mainly adult coeliac disease, but also sequelae of gastrectomy, exocrine pancreatic insufficiency, chronic biliary obstruction and all other causes of steatorrhoea. Practically, osteomalacia of digestive origin usually results from multifactorial hypovitaminosis D. The same applies to primary or nutritional biliary cirrhosis, which frequently entails low vitamin D blood levels despite subnormal 25-hydroxylation. Osteomalacia is also found in renal osteodystrophy, where it is partly due to inhibition of 1,25-hydroxylase and subsequent deficiency of 1,25-dihydrocholecalciferol, though other, non vitaminic substances may also be involved. Two misleading forms of the disease must be borne in mind: one with renal tubular lsions, the other associated with functional pseudo-hypoparathyroidism. The aetiology of most cases of osteomalacia due to vitamin D deficiency can be elucidated by a few simple tests.
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PMID:[Osteomalacia due to vitamin D deficiency. Part two: Aetiology (author's transl)]. 742 86


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