What are the symptoms? Features of Lowe syndrome include: congenital (present at birth) glaucomanystagmusopacity of the cornea, the transparent covering of the iris and pupil, due to overgrowth of scar tissue in about half of affected peoplerenal tubular dysfunction, which may lead to kidney failurelearning disability ranging from mild to severebehavioural problemsseizures, affecting about half of the children diagnosed with the syndrome (see entry Epilepsy). What are the causes? The cause of Lowe syndrome has been identified as mutation of the OCRL1 gene on the X chromosome. Recently, mutations in the same gene have also been found to cause a different syndrome, Dent disease. Patients with Dent disease have similar kidney problems to patients with Lowe syndrome but do not have the other features found in Lowe syndrome. The exact relationship between Lowe syndrome and Dent disease remains to be determined. How is it diagnosed? Reduction of a specific enzyme is known to be involved in Lowe syndrome, so diagnosis is made by demonstrating the loss of function of this enzyme and can be carried out by a laboratory test. At present, testing to see if people are carriers (carrier status) can be determined clinically by family history and/or, in most cases, upon careful examination of the lenses of the eye for minor characteristic abnormalities. Direct detection to see if people carry the gene mutation that causes Lowe syndrome can be accomplished in some families by testing the DNA itself. The enzyme test in skin samples is not useful for determining the carrier state. How is it treated? Treatment of many of the features of Lowe syndrome is symptomatic and may include surgical intervention for cataracts. Speech therapists and nurses specialising in feeding problems can often help. Medication may be needed if children have seizures. Although the use of human growth hormone has been used successfully, careful consideration is needed to balance its use against drawbacks. The renal tubular dysfunction, which causes loss of phosphate, acidosis, short stature, and renal rickets, may be treated by phosphate and bicarbonate replacement therapy. Inheritance patterns and prenatal diagnosis Inheritance patternsThe type of inheritance observed in Lowe syndrome is either X-linked or sporadic (with no other affected family members). Prenatal diagnosisAvailable by direct enzyme testing by chorionic villus sampling (CVS) or amniocentesis. In some affected families, direct testing of the DNA may also be useful for prenatal testing. Prenatal testing should be discussed with a geneticist prior to pregnancy. Is there support? Lowe Syndrome Association Tel: 01383 620 602Email: [email protected] (International Lowe Syndrome Association)Website: lowesyndrome.org (International Lowe Syndrome Association) The Association is part of the International Lowe Syndrome Association based in the USA. It provides information and support to families affected by Lowe Syndrome, and holds an international conference every two years where family, friends, medical and other professionals gather to exchange ideas and information. Group details last updated August 2014. Lowe Syndrome Trust Tel: 020 7794 8858Email: [email protected]Website: lowetrust.com The Trust is a Registered Charity in England and Wales No. 1081241. It supports families and initiates and funds medical research into Lowe Syndrome. Group details last updated December 2014.
What are the symptoms? Features of Lowe syndrome include: congenital (present at birth) glaucomanystagmusopacity of the cornea, the transparent covering of the iris and pupil, due to overgrowth of scar tissue in about half of affected peoplerenal tubular dysfunction, which may lead to kidney failurelearning disability ranging from mild to severebehavioural problemsseizures, affecting about half of the children diagnosed with the syndrome (see entry Epilepsy).
What are the causes? The cause of Lowe syndrome has been identified as mutation of the OCRL1 gene on the X chromosome. Recently, mutations in the same gene have also been found to cause a different syndrome, Dent disease. Patients with Dent disease have similar kidney problems to patients with Lowe syndrome but do not have the other features found in Lowe syndrome. The exact relationship between Lowe syndrome and Dent disease remains to be determined.
How is it diagnosed? Reduction of a specific enzyme is known to be involved in Lowe syndrome, so diagnosis is made by demonstrating the loss of function of this enzyme and can be carried out by a laboratory test. At present, testing to see if people are carriers (carrier status) can be determined clinically by family history and/or, in most cases, upon careful examination of the lenses of the eye for minor characteristic abnormalities. Direct detection to see if people carry the gene mutation that causes Lowe syndrome can be accomplished in some families by testing the DNA itself. The enzyme test in skin samples is not useful for determining the carrier state.
How is it treated? Treatment of many of the features of Lowe syndrome is symptomatic and may include surgical intervention for cataracts. Speech therapists and nurses specialising in feeding problems can often help. Medication may be needed if children have seizures. Although the use of human growth hormone has been used successfully, careful consideration is needed to balance its use against drawbacks. The renal tubular dysfunction, which causes loss of phosphate, acidosis, short stature, and renal rickets, may be treated by phosphate and bicarbonate replacement therapy.
Inheritance patterns and prenatal diagnosis Inheritance patternsThe type of inheritance observed in Lowe syndrome is either X-linked or sporadic (with no other affected family members). Prenatal diagnosisAvailable by direct enzyme testing by chorionic villus sampling (CVS) or amniocentesis. In some affected families, direct testing of the DNA may also be useful for prenatal testing. Prenatal testing should be discussed with a geneticist prior to pregnancy.
Is there support? Lowe Syndrome Association Tel: 01383 620 602Email: [email protected] (International Lowe Syndrome Association)Website: lowesyndrome.org (International Lowe Syndrome Association) The Association is part of the International Lowe Syndrome Association based in the USA. It provides information and support to families affected by Lowe Syndrome, and holds an international conference every two years where family, friends, medical and other professionals gather to exchange ideas and information. Group details last updated August 2014. Lowe Syndrome Trust Tel: 020 7794 8858Email: [email protected]Website: lowetrust.com The Trust is a Registered Charity in England and Wales No. 1081241. It supports families and initiates and funds medical research into Lowe Syndrome. Group details last updated December 2014.