Causes of Williams Syndrome
Williams Syndrome Causes: Book Excerpts
What causes Williams Syndrome?
Causes: Williams Syndrome:
Scientists have learned that
most individuals with Williams syndrome have a deletion of genetic
material on chromosome 7. This probably causes the physical and
developmental problems experienced by patients.
(Source: excerpt from NINDS Williams Syndrome Information Page: NINDS)
Medical news summaries relating to Williams Syndrome:
The following medical news items are relevant to causes of Williams Syndrome:
Related information on causes of Williams Syndrome:
As with all medical conditions,
there may be many causal factors.
Further relevant information on causes of Williams Syndrome may be found in:
Causes of Williams Syndrome: Online Medical Books
16 MEDICAL BOOKS ONLINE!
Review excerpts from medical books online, free, without registration,
for more information about the causes of Williams Syndrome.
Hypercalcemia:
Differential Diagnosis
(In a Page: Signs and Symptoms)
- Primary hyperparathyroidism
–Most commonly caused by an adenoma of one of the parathyroid glands (90% of cases of primary hyperparathyroidism)
–Less commonly caused by parathyroid hyperplasia or carcinoma (may be associated with multiple endocrine neoplasia syndromes)
–Symptoms may include weakness, confusion, polyuria, renal stones, nausea, and anorexia
–Symptoms are usually only present when calcium rises over 12 mg/dL - Drugs (e.g., thiazides, lithium)
- Malignancy (e.g., multiple myeloma, leukemia; lymphoma; breast, lung, and kidney cancers)
–Most common cause in hospitalized patients
–Hypercalcemia occurs due to stimulation of bone resorption by cytokines released from tumor cells or to the release of PTH-related peptide produced by the tumor
–Symptoms are identical to primary
hyperparathyroidism
-
Renal failure
-
Hyperthyroidism
-
Addison's disease
-
Familial hypocalciuric hypercalcemia
-
Vitamin A or D intoxication
-
Granulomatous disease (e.g., sarcoidosis, tuberculosis)
-
Adrenal insufficiency
-
Paget's disease
-
Immobilization
-
Hypophosphatemia
-
Acromegaly
-
Milk-alkali syndrome (due to excessive ingestion of milk or calcium supplements)
» READ BOOK EXCERPT ONLINE »
Source: In a Page: Signs and Symptoms, 2004
Hypercalcemia:
Differential Diagnosis
(In A Page: Pediatric Signs and Symptoms)
- Hyperparathyroidism
–Primary
–Familial (MEN types 1 and 2A)
–Familial (MEN types 1 and 2A)
–Most common endocrinopathy in
children with MEN 1
–PTH-secreting adenoma
–Secondary/tertiary
–Following renal transplantation
–Chronic hyperphosphatemia
-
Familial hypocalciuric hypercalcemia (FHH)
-
Vitamin D excess
–Nutritional excess
–Inflammatory/granulomatous diseases
–Sarcoidosis
–Eosinophilic granulomas
–Tuberculosis
–Coccidioidomycosis
–Coccidioidomycosis
–Lymphoma
-
Immobilization
–Bone resorption exceeds bone mineral accretion
-
Malignancy
–Neoplasms (leukemia, rhabdomyosarcoma,
ovarian tumor, brain tumor)
–Bony metastases
–Synthesis of parathyroid-related protein
(PTHrP)
-
Drugs
–Thiazide diuretics
–Lithium
–Vitamin A analogs
–Calcium supplements
–Alkali
-
Hypophosphatemia
-
Hyperthyroidism
-
Adrenal insufficiency
-
Pheochromocytoma
-
Renal failure
-
Williams syndrome
-
Juvenile rheumatoid arthritis
» READ BOOK EXCERPT ONLINE »
Source: In A Page: Pediatric Signs and Symptoms, 2007
Calcium imbalance:
Causes
(Professional Guide to Diseases (Eighth Edition))
Common causes of hypocalcemia include:
❑ inadequate intake of calcium and vitamin D, in which inadequate levels of vitamin D inhibit intestinal absorption of calcium
❑ hypoparathyroidism as a result of injury, disease, or surgery that decreases or eliminates secretion of parathyroid hormone (PTH), which is necessary for calcium absorption and normal serum calcium levels
❑ malabsorption or loss of calcium from the GI tract, caused by increased intestinal motility from severe diarrhea or laxative abuse; can also result from inadequate levels of vitamin D or PTH, or a reduction in gastric acidity, decreasing the solubility of calcium salts
❑ severe infections or burns, in which diseased and burned tissue traps calcium from the extracellular fluid
❑ overcorrection of acidosis, resulting in alkalosis, which causes decreased ionized calcium and induces symptoms of hypocalcemia
❑ pancreatic insufficiency, which may cause malabsorption of calcium and subsequent calcium loss in feces. In pancreatitis, participation of calcium ions in saponification contributes to calcium loss
❑ renal failure, resulting in excessive excretion of calcium secondary to increased retention of phosphate
❑ hypomagnesemia, which causes decreased PTH secretion and blocks the peripheral action of that hormone.
Causes of hypercalcemia include the following:
❑ hyperparathyroidism, which increases serum calcium levels by promoting calcium absorption from the intestine, resorption from bone, and reabsorption from the kidneys
❑ hypervitaminosis D, which can promote increased absorption of calcium from the intestine
❑ tumors, which raise serum calcium levels by destroying bone or by releasing PTH or a PTH-like substance, osteoclast-activating factor, prostaglandins and, perhaps, a vitamin D-like sterol
❑ multiple fractures and prolonged immobilization, which release bone calcium and raise the serum calcium level
❑ multiple myeloma, which promotes loss of calcium from bone.
Other causes include milk-alkali syndrome, sarcoidosis, hyperthyroidism, adrenal insufficiency, thiazide diuretics, and loss of serum albumin secondary to renal disease.
» READ BOOK EXCERPT ONLINE »
Source: Professional Guide to Diseases (Eighth Edition), 2005
Calcium imbalance:
Causes
(Handbook of Diseases)
Several factors can cause calcium imbalance.
Hypocalcemia
❑ Inadequate intake of calcium and vitamin D results in inhibited intestinal absorption of calcium.
❑ Hypoparathyroidism as a result of injury, disease, or surgery decreases or eliminates secretion of parathyroid hormone (PTH), which is necessary for calcium absorption and normal serum calcium levels.
❑ Malabsorption or loss of calcium from the GI tract can result from increased intestinal motility from severe diarrhea or laxative abuse. Malabsorption of calcium from the GI tract can also result from inadequate levels of vitamin D or PTH or a reduction in gastric acidity, which decreases the solubility of calcium salts.
❑ Severe infections or burns can lead to diseased and burned tissue trapping calcium from the extracellular fluid.
❑ Overcorrection of acidosis can lead to alkalosis, which causes decreased ionized calcium and induces symptoms of hypocalcemia.
❑ Pancreatic insufficiency may cause malabsorption of calcium and subsequent calcium loss in stool. In pancreatitis, participation of calcium ions in saponification contributes to calcium loss.
❑ Renal failure results in excessive excretion of calcium secondary to increased phosphate retention. Renal failure also results in loss of the active metabolite of vitamin D, which impairs calcium absorption.
❑ Hypomagnesemia causes decreased PTH secretion and blocks the peripheral action of that hormone.
Hypercalcemia
❑ Hyperparathyroidism increases serum calcium levels by promoting calcium absorption from the intestine, resorption from bone, and reabsorption from the kidneys.
❑ Hypervitaminosis D can promote increased absorption of calcium from the intestine.
❑ Tumors raise serum calcium levels by destroying bone or by releasing PTH or a PTH-like substance, osteoclast-activating factor, prostaglandins and, perhaps, a vitamin D–like sterol.
❑ Multiple fractures and prolonged immobilization release bone calcium and raise the serum calcium level.
❑ Multiple myeloma promotes loss of calcium from bone.
Other causes include milk-alkali syndrome, sarcoidosis, hyperthyroidism, adrenal insufficiency, and thiazide diuretics.
» READ BOOK EXCERPT ONLINE »
Source: Handbook of Diseases, 2003
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