Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0024523 (malabsorption)
 7,319 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 2 5/12-year-old Chinese boy was investigated for refractory seizures and psychomotor regression. His birth history was unremarkable. Generalized seizures occurred at 2 weeks of age with hypocalcemia. They recurred at 7 months of age and have become aggravated since. During hospitalization, in addition to hypocalcemia and hypomagnesemia, he was found to have hypoparathyroidism, cardiomyopathy, and brain atrophy. Excessive renal loss of magnesium, general intestinal malabsorption, or inadequate dietary intake of magnesium were excluded. He was successfully treated with oral supplements of 19-25 mmole/day of magnesium. Over a few months, he made a dramatic progress in development. His hypoparathyroidism and cardiomyopathy gradually resolved. However, intermittent seizures and psychomotor retardation persisted up to his present age of 6 3/12 years. At 4 months of age his younger sister also developed seizures and was found to have isolated hypomagnesemia. This was corrected by oral magnesium and followed by resolution of the seizure. She has developed normally up to her present age of 1 10/12 years. Both patients are currently maintained on oral magnesium oxide.
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PMID:Familial primary hypomagnesemia complicated with brain atrophy and cardiomyopathy. 929 31

The polyglandular autoimmune syndromes (PGA) are well known and are distinguished into type I, type II and type III. PGAI, also called APECED (autoimmune polyendocrinopathy, candidiasis and ectodermal dystrophy), is an autosomal recessive disorder, appearing in childhood and typically characterized by hypoparathyroidism (unusual in PGAII and PGAIII) and adrenal insufficiency. In APECED, autoimmune destruction of the pancreatic beta cells with development of insulin-dependent type 1 diabetes is possible, but less frequent than in the other PGAs, especially PGAII. The pathogenesis of this unique autoimmune disease is unknown. No HLA association seems to exist and genetic studies have assigned the autosomal APECED locus to chromosome 21. The case of a 28-years-old female suggesting the diagnosis of APECED, is presented, characterized by psycho-somatic abnormal development, teeth alterations, post-puberal gonadal failure with dystrophic hypoplasia of external genitalia, previous vaginal candidiasis, a slowly developing juvenile brittle diabetes. Intestinal malabsorption induced by Giardia lamblia occurred (probably resulting, like candidiasis, from immunological anergy). A strong familiarity linked to female sex was noticed (the mother, a sister, the little nice and some maternal female cousins being affected) while the father and a brother were healthy. Diabetes seems to be characterized by early onset and severe complications. In this patient no organo-specific antibodies were detected and the only immunologic disorder was a small decrease of CD3 and CD4/CD8 ratio, both CD4 and CD8 being at the lower normal range. This patient (and her female maternal relatives) needs a long-term follow-up in order to evaluate the function of endocrine glands and to initiate early treatment for hormonal deficits, as well as to detect the non-endocrine components of disease.
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PMID:[A rare case of juvenile diabetes mellitus associated with APECED (autoimmune poly-endocrinopathy, candidiasis and ectodermal dystrophy) with strong X-linked familial inheritance]. 930 48

Isolated magnesium malabsorption is a rare disorder, which bas been described in no more than 30 patients worldwide. Patients with this disorder typically present with convulsion and diarrhea in early infancy. Hypomagnesemia and hypocalcemia were found in a 35-year-old man with muscle cramps, who bad been diagnosed as primary hypoparathyroidism. Oral magnesium therapy corrected the low serum calcium, magnesium and parathyroid hormone levels. We report an atypical case of isolated magnesium malabsorption in an adult.
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PMID:Primary hypomagnesemia caused by isolated magnesium malabsorption: atypical case in adult. 1033 38

A 21-year-old female presented at age 2 years with a chronic mucocutaneous candidiasis and at age 3 alopecia totalis. Later, chronic hypoparathyroidism and autoimmune adrenal insufficiency appeared. In addition, malabsorption syndrome and signs of pernicious anaemia occurred. The onychomycosis totally improved under systemic treatment with fluconazole (Diflucan), endocrine and organ failure with replacement therapy. The autoimmune polyglandular syndrome (APS 1) is a rare autosomal recessive inherited disease. Chronic mucocutaneous candidiasis (CMC) generally presents very early in life and is the most frequent of the three main diseases of APS type 1 (chronic hypoparathyroidism, autoimmune Addison's disease). It can be considered as a precocious marker of APS type 1. Consequently, all patients affected by isolated CMC, especially children, should be evaluated and carefully followed up by immunological, biochemical, and clinical tests to recognize signs and symptoms of imminent or ongoing endocrine glandular failure.
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PMID:Autoimmune polyglandular syndrome (APS) type 1 and candida onychomycosis. 1197 74

A technique has been developed for the in vivo measurement of absorption of calcium in man after oral administration of 1 to 5 microcuries of calcium-47 and continuous counting of the radiation in the subject's arm with a large volume liquid scintillation counter. The maximum value for the arm counting technique is proportional to the absorption of tracer as measured by direct stool analysis. The rate of uptake by the arm is lower in subjects with either the malabsorption syndrome or hypoparathyroidism. The administration of vitamin D increases both the absorption rate and the maximum amount of calcium absorbed.
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PMID:CALCIUM ABSORPTION IN MAN: BASED ON LARGE VOLUME LIQUID SCINTILLATION COUNTER STUDIES. 1414 42

Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is caused by mutations in the autoimmune regulator (AIRE) gene, which has a central function in maintaining immunological tolerance. A number of conditions with proven or likely autoimmune pathogenesis occur in APECED: hypoparathyroidism, adrenocortical insufficency, candidiasis, hypogonadism, type 1 diabetes, hypothyroidism, hypophysitis, hepatitis, malabsorption, nail dystrophy, enamel hypoplasia and keratopathy. It is not clear which factors are responsible for variation in clinical picture of APECED, but human leukocyte antigen (HLA) genotype may be important. The authors report the first description of a case of primary pulmonary hypertension (PPH) in patient with APECED, caused by R257X mutation in AIRE. The HLA genotype of the patient (DRB1*01/DRB1*11, DQB1*0301/DQB1*0501) has been previously reported as a predisposing factor to PPH. The findings from this study, provided that other similar cases are reported, suggest that immune deregulation plays a role in the pathogenesis of primary pulmonary hypertension.
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PMID:Fatal primary pulmonary hypertension in a 30-yr-old female with APECED syndrome. 1458 26

A middle-aged woman developed gradually diseases where most probably the common denominator is an autoimmune process. The authors describe the clinical condition persisting for seven years, where hypoparathyroidism was associated with coeliac disease which did not respond to dietary measures. Malabsorption was manifested by a selective block for calcium absorption from the gut. The impaired conversion of vitamin D2 to D3 is of interest; it has obviously a multifactorial etiology. The main problem is the patient's tendency to respond by tachyphylaxis to oral vitamin D administration. The only effective therapeutic procedure apart from those listed is so far parenteral administration of vitamin D3, calcitrol.
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PMID:[Idiopathic hypoparathyroidism with celiac disease--diagnostic and therapeutic problem]. 1563 3

A 62-yr-old woman with idiopathic hypoparathyroidism was admitted to our hospital for severe anemia (Hb 5.6 gr/dl) and hypoalbuminemia (3.2 gr/dl). Hypoparathyroidism was diagnosed when she was 33 yr old, because of repeated hypocalcemic tetanic crises, low calcium and high phosphate levels. Since then she has been treated with oral calcium gluconate and calcitriol, with satisfactory clinical balance and normalization of calcium serum levels. After menopause, despite this therapy, the patient still had frequent hypocalcemic tetanic crises, resolving with iv administration, in high doses, of calcium gluconate. The anemia, for which the patient came to our attention, was hypochromic microcytic and in the past she had been treated with iron and transfusion therapy. The patient's recent history also revealed recurrent long lasting episodes of diarrhea, hyporexia and weight loss. The clinical presentation seemed related to a malabsorption syndrome: a celiac disease (CD) diagnosis was confirmed, based upon the finding, at duodenal biopsy, of a severe villous atrophy. A bone mineral density (BMD) evaluation showed a limited reduction of femoral values classified as osteopenia according to the World Health Organization (WHO) criteria. Thereafter, the patient was instructed to follow a gluten-free diet which rapidly led to an improvement of the nutritional parameters and to a reduction of calcium and vitamin D requirements. Difficult clinical and metabolic control in hypoparathyroidism patients may suggest the possible co-existence of both endocrine and extra-endocrine autoimmune diseases, such as CD. Moreover, bone density, normally reduced in celiac patients, seems to be preserved (maintained) by the lack of parathyroid secretion.
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PMID:Hypoparathyroidism and co-existing celiac disease. 1563 34

Patients with an underlying autoimmune endocrine disorder are at an increased risk of developing other autoimmune diseases. We describe a patient with idiopathic autoimmune hypoparathyroidism who developed hyperthyroidism due to Graves disease and subsequently was diagnosed with celiac disease. Malabsorption of L-thyroxine was the only clue regarding the presence of celiac disease. This particular association of these three autoimmune disorders occurring in the same patient has not, to our knowledge, been previously reported. The presentation, investigations performed, and treatment provided are discussed and the literature pertaining to similar cases is reviewed.
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PMID:Celiac disease occurring in a patient with hypoparathyroidism and autoimmune thyroid disease. 1655 6

We describe here a case of a 42-year-old male patient with severe hipogammaglobulinemia primary hypoparathyroidism and hypogonadism, various G1 disorders, malabsorption syndrome, anemia and recurrent severe sinopulmonary infections. We present also difficulties and limitations relating to diagnosis of common variable immunodeficiency and shortly present review of literature.
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PMID:[Primary hypoparathyroidism and hypergonadotropic hypogonadism in a male patient with common variable immunodeficiency. A case report]. 1678 8


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