Fanconi Syndrome, A Simple Guide To The Condition, Diagnosis, Treatment And Related Conditions

By Kenneth Kee

Fanconi syndrome is a medical disorder of the tubes of the kidney in which some substances normally re-absorbed into the bloodstream by the kidneys are excreted into the urine instead.
Fanconi syndrome indicates the generalized poor function of the kidney’s proximal tubules, not the other nephron segments
Fanconi syndrome results in:
1. Aminoaciduria,
2. Glycosuria,
3. Phosphaturia,
4. Renal tubular acidosis (RTA) type 2 (proximal),
5. Hypophosphatemic rickets (children) or osteomalacia (adults),
6. Renal glycosuria
It may be inherited or acquired:
Inherited
1. Primary idiopathic:
a. Sporadic or familial (autosomal dominant - chromosome 15).
This occurs in the absence of any identifiable reason, and most cases are sporadic.
Some cases are genetic, but the mode of inheritance appears to be variable (autosomal-dominant, autosomal-recessive, X-linked).
2. Secondary:
a. Cystinosis, tyrosinaemia,
b. Wilson's disease,
c. Lowe's syndrome (oculo-cerebro-renal syndrome: bilateral congenital cataracts, glaucoma, general hypotonia, hyporeflexia, severe learning disability and Fanconi syndrome),
d. Galactosemia,
e. Fructose intolerance,
f. Glycogen storage disorders and
g. Mitochondrial cytopathies.
Acquired
1. Intrinsic renal disease:
a. Acute tubular necrosis,
b. Interstitial nephritis,
c. Hypokalemic nephropathy,
d. Myeloma,
e. Amyloidosis,
f. Sjogren's syndrome,
g. Rejected transplant.
2. Hyperparathyroidism.
3. Drugs - e.g., cisplatin, ifosfamide, sodium valproate, tenofovir, aminoglycoside antibiotics and deferasirox
4. Toxins:
a. Glue sniffing,
b. Heavy metals,
c. Bee stings
Causes

Fanconi syndrome can be caused by faulty genes or it may occur later in life due to kidney damage.
Fanconi syndrome is caused by many predominantly rare causes.
The most frequent causes of Fanconi syndrome in children are genetic defects that entail the body's capability to break down some substances such as:
1. Cystine (cystinosis)
2. Fructose (fructose intolerance)
3. Galactose (galactosemia)
4. Glycogen (glycogen storage disease)
Other causes in children are:

1. Exposure to heavy metals such as lead, mercury, or cadmium
2. Lowe syndrome,
3. Wilson disease
In adults, Fanconi syndrome can be caused by a range of things that damage the kidneys, such as:
1. Certain medicines, such as azathioprine, cidofovir, gentamicin, and tetracycline
2. Kidney transplant
3. Light chain deposition disease
4. Multiple myeloma
5. Primary amyloidosis
Symptoms
1. Polyuria, polydipsia, dehydration
2. Bone deformities
Diagnosis
The diagnosis is based on too much loss of substances in the urine (e.g., amino acids, glucose, phosphate, bicarbonate) in the absence of high plasma concentrations
Further tests are needed to identify the cause.
1. Proteinuria: normally, only in small amounts.
2. Hypo-kalemia, hypo-phosphatemia and hyper-chloremic metabolic acidosis
Further tests and a physical examination may show signs of:
1. Dehydration due to excess urination
2. Growth failure
3. Osteomalacia
4. Rickets
5. Type 2 renal tubular acidosis
Treatment
Treatment mainly comprises of the replacement of substances lost in the urine and specific treatment for the underlying cause.
Treatments of the underlying cause are:
1. Alkali and potassium for RTA (renal tubular acidosis), phosphate and calcitriol for phosphate wasting.
2. Dehydration due to polyuria
3. Metabolic acidosis due to the loss of bicarbonate
4. Thiazide diuretic: may be essential to prevent volume expansion
5. Correction of metabolic acidosis
6. Phosphate and vitamin D supplementation
Renal losses of glucose, amino acids, and uric acid are not normally symptomatic and do not need replacement.

TABLE OF CO

• Language: English
• Publisher: Kenneth Kee
• Release date: Jul 4, 2017
• ISBN: 9781370006564

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"

Book preview

Fanconi 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 2018 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 Fanconi 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 Fanconi Syndrome)

This eBook is licensed for your personal enjoyment only. This eBook may not be re-sold or given away to other people. If you 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 you 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 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

Fanconi Syndrome

What Is Fanconi Syndrome?

Fanconi syndrome is a medical disorder of the kidney tubes in which some substances normally absorbed into the bloodstream by the kidneys are excreted into the urine instead.

Fanconi syndrome comprises of multiple defects in renal proximal tubular re-absorption, causing:

1. Glucosuria,

2. Phosphaturia,

3. Generalized aminoaciduria, and

4. Bicarbonate wasting.

Fanconi syndrome may be hereditary or acquired.

Symptoms in children are:

1. Failure to thrive,

2. Growth retardation, and

3. Rickets.

Symptoms in adults are:

1. Osteomalacia and

2. Muscle weakness.

What are the causes of Fanconi Syndrome?

Causes

Fanconi syndrome can be produced by faulty genes, or it may lead later to life due to kidney damage.

Occasionally the cause of Fanconi syndrome is not known.

Frequent causes of Fanconi syndrome in children are genetic defects that influence the body's ability to break down certain compounds such as:

1. Cystine (cystinosis)

2. Fructose (fructose intolerance)

3. Galactose (galactosemia)

4. Glycogen (glycogen storage disease)

5. Cystinosis is the most frequent cause of Fanconi syndrome in children.

Other causes in children are:

1. Exposure to heavy metals such as lead, mercury, or cadmium

2. Lowe syndrome, a rare genetic disorder of the eyes, brain, and kidneys

3. Wilson disease

In adults, Fanconi syndrome can be produced by numerous things that injure the kidneys, such as:

1. Certain medicines, such as azathioprine, cidofovir, gentamicin, and tetracycline

2. Kidney transplant

3. Light chain deposition disease

4. Multiple myeloma

5. Primary amyloidosis

Fanconi syndrome can be

1. Hereditary

2. Acquired

Hereditary Fanconi syndrome

This disorder normally follows another genetic disorder, mainly cystinosis.

Cystinosis is an inherited (autosomal recessive) metabolic disorder in which cystine collects within cells and tissues (and is not released in excess in the urine as happens in cystinuria).

Besides renal tubular dysfunction, other complications of cystinosis are:

1. Eye disorders,

2. Hepatomegaly,

3. Hypothyroidism, and

4. Other manifestations.

Fanconi syndrome may also follow:

1. Wilson disease,

2. Hereditary fructose intolerance,

3. Galactosemia,

4.