A Simple Guide to Nail Patella Syndrome, Diagnosis, Treatment and Related Conditions

By Kenneth Kee

This book describes Nail Patella Syndrome, Diagnosis and Treatment and Related Diseases

Nail-Patella Syndrome (NPS) is a rare inherited disorder characterized by abnormalities of the nails, knees, elbows, and pelvis (tetrad of changes in the nails, knees, and elbows, and the presence of iliac horns).

Some affected people may have disorders in other areas of the body such as the kidneys and eyes.

The severity of the disorder and the linked signs and symptoms can differ significantly from person to person, even among members of the same family.

Nail-Patella Syndrome (Hereditary Onycho-Osteodysplasia) is caused by alterations (pathogenic variants or mutations) in the LMX1B gene and is inherited in an autosomal dominant manner.

Nail-Patella Syndrome is a rare inherited disorder with an estimated incidence of 1:50,000.

The beginning of symptoms may occur in the neonatal, infant, or childhood stage.

Both genders are equally affected.

The disorder may affect persons worldwide and occurs in all ethnic groups.

It is inherited in an autosomal dominant pattern which indicates that a person with the hereditary disorder has a 50% chance of passing it on to their children.

This gene is thought to produce protein that regulates other genes by “switching them on” during development.

Children, who do not inherit the abnormal gene, will not develop the disorder or pass it on to their offspring.

In autosomal dominant inheritance with variable expressivity, persons with the same genetic disorder demonstrate a wide range signs and symptoms.

While some may be asymptomatic or show only mild signs and symptoms, others may have life-threatening complications from the disorder.

It is thought that factors other than gene mutation, such as lifestyle and environment may add to the development of the disorder.

Almost every person with nail patella syndrome has abnormal nails, and many persons also have disorders with their patellae, elbows and pelvis.

Some of the disorders will be obvious from birth but others may not become apparent until later on.

The diagnostic tetrad involves fingernail dysplasia, absent or hypoplastic patellae, presence of posterior conical iliac horns, and deformation or luxation (i.e. hypoplasia) of the radial heads.

The medical presentations are extremely inconsistent in both incidence and severity, with interfamilial and intra-familial variability.

Kidney disease (focal segmental glomerulosclerosis) and glaucoma are now identified as part of the syndrome.

The most serious complication linked with nail-patella syndrome is nephropathy

Diagnosis of nail-patella syndrome involves a combination of medical evaluation, family history analysis, and imaging studies.

There is no curative treatment for nail patella syndrome.

Nail-patella syndrome is a lifelong disorder, and treatment is directed on managing specific symptoms and improving quality of life.
Medicines for high blood pressure and glaucoma
Braces and splints for abnormalities concerning the bones
Surgeries to correct bone abnormalities
Physical therapy
Dialysis for chronic kidney malfunction
Kidney transplantation for end-stage renal disease

Nail and skeletal abnormalities are normally stable throughout life, even though joint pain and limited mobility may produce discomfort.

Kidney involvement can range from mild proteinuria to more severe kidney disorder but not all persons with the syndrome develop kidney disorders.

With proper treatment, persons with nail-patella syndrome can lead fulfilling lives.

TABLE OF CONTENT
Introduction
Chapter 1 Nail Patella Syndrome
Chapter 2 Cause
Chapter 3 Symptoms
Chapter 4 Diagnosis
Chapter 5 Treatment
Chapter 6 Prognosis
Chapter 7 Nail Biting Disorder
Chapter 8 Kidney Failure
Epilogue

• Language: English
• Publisher: Kenneth Kee
• Release date: Jun 22, 2023
• ISBN: 9798215738542

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

A

Simple

Guide

To

Nail Patella Syndrome,

Diagnosis,

Treatment

And

Related Conditions

By

Dr Kenneth Kee

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

Ph.D (Healthcare Administration)

Copyright Kenneth Kee 2023 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 Nail Patella Syndrome, Diagnosis and Treatment and Related Diseases which is seen in some of my patients in my Family Clinic.

(What You Need to Treat Nail Patella Syndrome)

This e-Book 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 autobiography account of my journey as a medical student to family doctor on my other blog: http://afamilydoctorstale.blogspot.com.

This autobiography 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.

My diagnosis and treatment capability has improved tremendously from my continued education.

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

Nail-Patella Syndrome

What is Nail-Patella Syndrome?

Nail-Patella Syndrome (NPS) is a rare inherited disorder characterized by abnormalities of the nails, knees, elbows, and pelvis (tetrad of changes in the nails, knees, and elbows, and the presence of iliac horns).

Some affected people may have disorders in other areas of the body such as the kidneys and eyes.

The severity of the disorder and the linked signs and symptoms can differ significantly from person to person, even among members of the same family.

Nail-Patella Syndrome is caused by alterations (pathogenic variants or mutations) in the LMX1B gene and is inherited in an autosomal dominant manner.