Lowe Syndrome (Oculocerebrorenal syndrome) A Simple Guide To The Condition, Diagnosis, Treatment And Related Conditions

by Kenneth Kee

Overview

Lowe syndrome (oculocerebrorenal syndrome) is characterized by:
1. Vision disorders such as clouding of the lenses of the eyes (cataracts) that are present at birth,
2. Kidney disorders that normally develop in the first year of life, and
3. Brain abnormalities that are linked with intellectual disabilities.
Lowe syndrome is inherited as an X-linked genetic disorder.
Lowe syndrome is a rare genetic disorder that happens almost specially in males.
The frequency is evaluated to be between 1 and 10 males per 1,000,000 people.
It has been identified in most cultures around the world and seems to have the same frequency in all populations.
Because Lowe Syndrome is an X-linked syndrome, the majority of affected persons are males.
There have been a few cases of females diagnosed with Lowe Syndrome.
In these cases, the female typically has one inactive X-chromosome and the active X-chromosome has the mutation for Lowe Syndrome.
Lowe syndrome (the oculocerebrorenal syndrome OCR) is a multiple system disorder that is typically featured by anomalies involving the eye, the nervous system and the kidney.
It is an infrequent, pan-ethnic, X-linked disease.
Bilateral cataract and severe hypo-tonia are present at birth.
In the later weeks or months of the infant, a proximal renal tubulopathy (Fanconi-type) is apparent and the ocular feature may be complicated by glaucoma and cheloids.
Psychomotor retardation is evident in childhood, while behavioral disorders are present and renal complications occur in adolescence.
The mutation of the gene OCRL1 localized at Xq26.1 is accountable for the disease
Phosphatidylinositol 4,5-bisphosphate 5-phosphatase INP51 controls the enzyme phosphatidylinositol (4,5) bisphosphate 5 phosphatase, PtdIns (4,5)P2, in the trans-Golgi network
Both enzymatic and molecular testing is available for confirmation of the diagnosis and for prenatal detection of the disease.
Life span seldom exceeds 40 years.
Mothers may be carriers with
1. 25% possibility of having an affected boy,
2. 25% possibility of having a carrier daughter,
3. 25% possibility of having an unaffected boy,
4. 25% possibility of having a non-carrier girl.
Female carriers of Lowe syndrome may be diagnosed in 94% of patients by slit-lamp examination because of the presence of considerably punctuate white to grey opacities, issued in a radial fashion in all layers of the lenticular cortex.
Using flanking linked markers, DNA analysis can show the same molecular defect (in a heterozygous state) as that previously recognized in the patient.
Boys with Lowe syndrome have cataracts that are present at birth in each eye
About half of eyes will form high pressure in the eye (glaucoma) that can injure the optic nerve
Infants with Lowe syndrome have poor muscle tone (hypo-tonia) at birth.
The kidney disorders linked with Lowe syndrome is called proximal tubular dysfunction of the Fanconi type.
There is no cure for Lowe Syndrome, but many of the symptoms can be treated successfully by:
1. Medicines,
2. Surgery,
3. Physical and occupational treatments,
4. Vision therapy,
The treatments are:

1. Cataract extraction,
2. Glaucoma control,
3. Physical and speech therapy,
4. Use of drugs to address behavioral problems, and
5. Correction of the tubular acidosis
Seizure disorders are treated with anticonvulsant medications.

Behavior disorders are treated with behavior modification and medications.
Early intervention programs are advised and should start in early infancy:
1. Physical therapy,
2. Occupational therapy,
3. Speech and language therapy,
4. Special education services
5. Services for visually impaired.
The longest reported survival is that of a 54 year-old patient.

TABLE OF CONTENT
Introduction
Chapter 1 Lowe Syndrome
Chapter 2 Causes
Chapter 3 Symptoms
Chapter 4 Diagnosis
Chapter 5 Treatment
Chapter 6 Prognosis
Chapter 7 Cataract
Chapter 8 Renal Failure
Epilogue

Product Details

BN ID:	2940154415184
Publisher:	Kenneth Kee
Publication date:	06/13/2017
Sold by:	Smashwords
Format:	eBook
File size:	129 KB

About the Author

Medical doctor since 1972. Started Kee Clinic in 1974 at 15 Holland Dr #03-102, relocated to 36 Holland Dr #01-10 in 2009. Did my M.Sc (Health Management ) in 1991 and Ph.D (Healthcare Administration) in 1993. Dr Kenneth Kee is still working as a family doctor at the age of 65. However he has reduced his consultation hours to 3 hours in the morning and 2 hours in the afternoon. He first started writing free blogs on medical conditions seen in the clinic in 2007 on http://kennethkee.blogspot.com. His purpose in writing these simple guides was for the health education of his patients which is also his dissertation for his Ph.D (Healthcare Administration). He then wrote an autobiolographical account of his journey as a medical student to family doctor on his other blog afamilydoctorstale.blogspot.com. This autobiolographical account “A Family Doctor’s Tale” was combined with his early “A Simple Guide to Medical Conditions” into a new Wordpress Blog “A Family Doctor’s Tale” on http://ken-med.com. From which many free articles from the blog was taken and put together into 550 amazon kindle books and some into Smashwords.com eBooks. He apologized for typos and spelling mistakes in his earlier books. He will endeavor to improve the writing in futures. Some people have complained that the simple guides are too simple. For their information they are made simple in order to educate the patients. The later books go into more details of medical conditions. The first chapter of all my ebooks is always taken from my blog A Simple Guide to Medical Conditions which was started in 2007 as a simple educational help to my patients on my first blog http://kennethkee.blogspot.com. The medical condition was described simply and direct to the point. Because the simple guide as taken from the blog was described as too simple, I have increased the other chapters to include more detailed description of the illness, symptoms, diagnosis and treatment. As a result there are the complaints by some readers of constant repetitions of the same contents but in detail and fairly up to date. He has published 550 eBooks on various subjects on health, 1 autobiography of his medical journey, another on the autobiography of a Cancer survivor, 2 children stories and one how to study for his nephew and grand-daughter. The purpose of these simple guides is to educate patient on health conditions and not meant as textbooks. He does not do any night duty since 2000 ever since Dr Tan had his second stroke. His clinic is now relocated to the Bouna Vista Community Centre. The 2 units of his original clinic are being demolished to make way for a new Shopping Mall. He is now doing some blogging and internet surfing (bulletin boards since the 1980's) starting with the Apple computer and going to PC. All the PC is upgraded by himself from XT to the present Pentium duo core. The present Intel i7 CPU is out of reach at the moment because the CPU is still expensive. He is also into DIY changing his own toilet cistern and other electric appliance. His hunger for knowledge has not abated and he is a lifelong learner. The children have all grown up and there are 2 grandchildren who are even more technically advanced than the grandfather where mobile phones are concerned. This book is taken from some of the many articles in his blog (now with 740 posts) A Family Doctor’s Tale. Dr Kee is the author of: "A Family Doctor's Tale" "Life Lessons Learned From The Study And Practice Of Medicine" "Case Notes From A Family Doctor"