Gaucher Disease, A Simple Guide To The Condition, Diagnosis, Treatment And Related Conditions

by Kenneth Kee

Overview

This book describes Gaucher Disease, Diagnosis and Treatment and Related Diseases

I first came across a rare case of Gaucher Disease in a small boy in Singapore and the parents told me that they are paying U$35,000 for each treatment given. I was shocked by the cost.

Gaucher disease (also called Gaucher's disease) is an inherited (genetic) disorder that cause the abnormal collection of fatty substances called glycolipids in different body tissues due to a deficiency of an enzyme termed glucocerebrosidase.
Gaucher disease is due to a genetic defect in a gene known as GBA1.
Gaucher disease is part of a class of diseases called lysosomal storage diseases, called after a type of cell that is involved by the buildup of glycolipids.
Inheritance
Gaucher disease is inherited in an autosomal recessive pattern, meaning that both parents must have a copy of the defective gene in order for a child to be affected.
There are several types of Gaucher disease such as type 1, 2, 3 Gaucher disease; perinatal lethal Gaucher disease, and cardiovascular Gaucher disease.
The most frequent type of Gaucher disease is type 1, and this type normally does not involve the nervous system.
Type 2 Gaucher disease and perinatal lethal Gaucher disease are rare and severe forms of the disease.
1.Type 1 Gaucher disease is the most frequent form of the disorder
About 90% of people with the disorder have this type.
The signs and symptoms of this type can differ in their extent of severity.
The symptoms can happen in childhood or may be postponed until adulthood.
The brain and spinal cord, or central nervous system (CNS), are normally not involved by the disease, so this type is occasionally referred to as non-neuronopathic, meaning that the disorder does not involve nerve cells.
2.Type 2 Gaucher disease involves the nervous system and is called neuronopathic Gaucher disease.
Signs and symptoms are seizures, eye movement disorders, and brain damage.
Type 2 Gaucher disease is very serious and normally causes life-threatening medical disorders that start in infancy.
3.Type 3 Gaucher disease (chronic neuronopathic form) is a neuronopathic form of Gaucher disease that involves the nervous system, but symptoms do not progress as fast as in Type 2.
The signs and symptoms may happen in infancy or later in childhood.
4.Perinatal lethal Gaucher disease is the most serious form of the disorder.
With this type, the life-threatening disorders can happen before birth.
There may be excess swelling and fluid collection in the fetus (hydrops fetalis) before birth.
Other features can be serious neurological disturbances, abnormal facial features, hepatosplenomegaly and dry or scaly skin.
Most infants with this form of the disorder live only a few days after birth.
5.Cardiovascular Gaucher disease, regarded a rare subgroup of type 3 disease, mainly involves the heart, causing calcification or hardening of the heart valves.
All of the types of Gaucher disease are produced by a deficiency of the enzyme glucocerebrosidase, resulting in an abnormal collection of fatty substances, glycolipids, in the body cells.
Mutations in the gene called GBA1 are the source of the deficient enzyme, and over 300 different GBA1 mutations have been recognized in people with Gaucher disease.
Diagnosis
The enzyme assay test determines the activity of the glucocerebrosidase enzyme in certain white blood cells.
The presence of less than 15% of normal enzyme activity is diagnostic for Gaucher disease.
Genetic analysis is also done to verify the specific type of mutations in the
Treatment
There is no cure for Gaucher disease
Enzyme replacement therapy (ERT) is the main form of treatment for people with type 1 Gaucher disease.

TABLE OF CONTENT
Introduction
Chapter 1 Gaucher Disease
Chapter 2 Causes
Chapter 3 Symptoms
Chapter 4 Diagnosis
Chapter 5 Treatment
Chapter 6 Prognosis
Chapter 7 Genetic Disease
Chapter 8 Metabolic Syndrome
Epilogue

Product Details

BN ID:	2940163410552
Publisher:	Kenneth Kee
Publication date:	12/07/2019
Sold by:	Smashwords
Format:	eBook
File size:	201 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 70. 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 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.com This 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) starting with 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"