How common is Lowe syndrome?

How common is Lowe syndrome?

Lowe syndrome or oculocerebrorenal syndrome of Lowe (OCRL) is a rare disorder characterized by multiple features occurring mainly in males. Its prevalence is approximately 1 in 500,000. Its systemic manifestations include mental retardation, hypotonia, and kidney dysfunction in the form of Fanconi syndrome.

How is Lowe syndrome inherited?

This condition is inherited in an X-linked pattern. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition.

Who discovered Lowe syndrome?

It was first described in 1952 by Drs. Lowe, Terrey, and MacLachlan at the Massachusetts General Hospital in Boston. LS is caused by a single defective gene (an alteration or “mutation”) in a gene called OCRL1. Because of this defective gene, an essential enzyme called PIP2-5-phosphatase is not produced.

How long do people with Lowe syndrome live?

The filters in the kidney (glomeruli) usually begin to fail in boys with Lowe syndrome after 10 years of age. Kidney failure is slow and progressive and results in a reduced life expectancy of approximately 30-40 years.

What is Dent disease?

Dent disease is a rare genetic kidney disorder characterized by spillage of small proteins in the urine, increased levels of calcium in the urine, kidney calcifications (nephrocalcinosis), recurrent episodes of kidney stones (nephrolithiasis) and chronic kidney disease. Dent disease affects males almost exclusively.

Is Lowe syndrome Rare?

Affected Populations Lowe syndrome is a rare genetic disorder that occurs almost exclusively in males. The prevalence is estimated to be between 1 and 10 males per 1,000,000 people.

What is Lowe’s syndrome?

Lowe syndrome is characterized by vision problems including clouding of the lenses of the eyes (cataracts) that are present at birth, kidney problems that usually develop in the first year of life, and brain abnormalities that are associated with intellectual disabilities.

Is Dent disease fatal?

The care of patients with Dent’s disease is supportive, focusing on the treatment of hypercalciuria and the prevention of nephrolithiasis. The vital prognosis is good in the majority of patients. Progression to end-stage renal failure occurs between the 3rd and 5th decades of life in 30-80% of affected males.

Does Sjogren’s syndrome run in families?

A person who develops Sjögren’s syndrome most likely inherits the risk from one or both of their parents, but in addition, there’s been some sort of environmental impact—such as a viral or bacterial infection—that causes it to become active.

Can sjogrens affect speech?

In addition, some individuals may have difficulty speaking or slurred speech (dysarthria). Certain symptoms of Marinesco-Sjögren syndrome (e.g., vision problems, speech difficulties) make it easy to underestimate the intelligence of an affected child.

Is interstitial nephritis hereditary?

Hereditary interstitial kidney disease is an uncommon disease, but it tends to affect families in a very difficult way. Many family members become involved as the disease is autosomal dominant in inheritance.

Is Fanconi syndrome fatal?

Symptoms and Signs of Fanconi Syndrome develops, leading to progressive renal failure that may be fatal before adolescence.

How did I get Sjogren’s syndrome?

Scientists aren’t certain why some people develop Sjogren’s syndrome. Certain genes put people at higher risk of the disorder, but it appears that a triggering mechanism — such as infection with a particular virus or strain of bacteria — is also necessary.

Can ibuprofen cause interstitial nephritis?

NSAIDs are a recognised cause of acute interstitial nephritis. Some NSAIDs (diclofenac, ibuprofen, mefenamic acid, naproxen) can be purchased over-the-counter, without medical consultation. We report two cases of unsupervised NSAID ingestion associated with renal failure.