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    Lowe Syndrome (Oculocerebrorenal syndrome) A Simple Guide To The Condition, Diagnosis, Treatment And Related Conditions
    Lowe Syndrome (Oculocerebrorenal syndrome) A Simple Guide To The Condition, Diagnosis, Treatment And Related Conditions
    Lowe Syndrome (Oculocerebrorenal syndrome) A Simple Guide To The Condition, Diagnosis, Treatment And Related Conditions
    Ebook91 pages49 minutes

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

    By Kenneth Kee

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    About this ebook

    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

    LanguageEnglish
    PublisherKenneth Kee
    Release dateJun 13, 2017
    ISBN9781370814930
    Lowe Syndrome (Oculocerebrorenal syndrome) A Simple Guide To The Condition, Diagnosis, Treatment And Related Conditions
    Author

    Kenneth Kee

    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 74However he has reduced his consultation hours to 3 hours in the morning and 2 hours inthe afternoon.He first started writing free blogs on medical disorders 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 autobiography account of his journey as a medical student to family doctor on his other blog http://afamilydoctorstale.blogspot.comThis autobiography account “A Family Doctor’s Tale” was combined with his early “A Simple Guide to Medical Disorders” 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 1000 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 disorders.He has published 1000 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 disorders 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 Buona 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) startingwith the Apple computer and going to PC.The entire 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"

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      Book preview

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

      Lowe Syndrome

      (Oculocerebrorenal syndrome)

      A

      Simple

      Guide

      To

      The Condition,

      Diagnosis,

      Treatment

      And

      Related Conditions

      By

      Dr Kenneth Kee

      M.B.,B.S. (Singapore)

      Ph.D (Healthcare Administration)

      Copyright Kenneth Kee 2017 Smashwords Edition

      Published by Kenneth Kee at Smashwords.com

      Dedication

      This book is dedicated

      To my wife Dorothy

      And my children

      Carolyn, Grace

      And Kelvin

      This book describes Lowe Syndrome, Diagnosis and Treatment and Related Diseases which is seen in some of my patients in my Family Clinic.

      (What The patient Need to Treat Lowe Syndrome)

      This eBook is licensed for your personal enjoyment only. This eBook may not be re-sold or given away to other people. If the patient would like to share this book with another person, please purchase an additional copy for each reader.

      If you’re reading this book and did not purchase it, or it was not purchased for your use only, then please return to Smashwords.com and purchase your own copy.

      Thank the patient for respecting the hard work of this author.

      Introduction

      I have been writing medical articles for my blog http://kennethkee.blogspot.com (A Simple Guide to Medical Disorder) for the benefit of my patients since 2007.

      My purpose in writing these simple guides was for the health education of my patients.

      Health Education was also my dissertation for my Ph.D (Healthcare Administration).

      I then wrote an autobiolographical account of his journey as a medical student to family doctor on his other blog http://afamilydoctorstale.blogspot.com.

      This autobiolographical account A Family Doctor’s Tale was combined with my early A Simple Guide to Medical Disorders into a new Wordpress Blog A Family Doctor’s Tale on http://kenkee481.wordpress.com.

      From which many free articles from the blog was taken and put together into 800 amazon kindle books and 200 into Smashwords.com eBooks.

      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 disorders.

      The first chapter is always from my earlier blogs which unfortunately tends to have typos and spelling mistakes.

      Since 2013, I have tried to improve my spelling and writing.

      As I tried to bring the patient the latest information about a disorder or illness by reading the latest journals both online and offline, I find that I am learning more and improving on my own medical knowledge in diagnosis and treatment for my patients.

      Just by writing all these simple guides I find that I have learned a lot from your reviews (good or bad), criticism and advice.

      I am sorry for the repetitions in these simple guides as the second chapters onwards have new information as compared to my first chapter taken from my blog.

      I also find repetition definitely help me and maybe some readers to remember the facts in the books more easily.

      I apologize if these repetitions are irritating to some readers.

      Chapter 1

      Lowe syndrome

      What is Lowe syndrome?

      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.

      This disorder has been documented in North and South America, Europe, Japan, and India.

      It has been identified in most cultures around the world and seems to have the same frequency in all populations.

      The incidence in the USA is about 1-10 persons per million people or about 250-2500 actual cases.

      Because Lowe Syndrome is an X-linked

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