Kenneth Kee

Fanconi Syndrome, A Simple Guide To The Condition, Diagnosis, Treatment And Related Conditions (eBook, ePUB)

• Format: ePub

Produktbeschreibung

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....

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Produktdetails

• Verlag: Kenneth Kee
• Erscheinungstermin: 4. Juli 2017
• Englisch
• ISBN-13: 9781370006564
• Artikelnr.: 48762234

Autorenporträt

Dr. Kenneth Kee is a well-known medical doctor from Singapore who has been practicing medicine since 1972.
He graduated from the University of Singapore and furthered his studies with a Master of Science in Health Management in 1991, followed by a Ph.D. in Healthcare Administration in 1993.
Dr. Kee established Kee Clinic in 1974, located in the Holland Drive area of Singapore. The clinic has been a prominent feature of the community, offering general medical services for 5 decades.
Dr Kee also served his country Singapore as a national service police Inspector at night from 1975 to 1985 while working at his clinic during the day.
He had served as a police guard to the Woodland Petroleum Tanks at night during the Indonesian Confrontation period, took part in police rounds at night in the Beach Road area and taught First aid and emergency resuscitation to Police recruits.
He received the Singapore Police Bicentennial 2020 Medallion on 1st March 2024 as recognition for his work in the Singapore Police.
Even as he grew older, Dr. Kee continued to work actively in his clinic, although he eventually reduced his consultation hours.
Beyond his medical career, Dr. Kee is also an author.
He started writing about medical conditions in 2007, using blogs and other online platforms to share his knowledge with a broader audience.
Over time, he published various books, many of which provide simple and accessible guides to different health conditions.
His works include "A Family Doctor's Tale," "My Personal Singapore History," and numerous medical guides, available through platforms like Amazon.
His books often combine his personal experiences as a family doctor with insights into Singapore's healthcare system and history.
Dr. Kee has written extensively on health topics, contributing to both medical literature and general knowledge resources.

Dr. Kenneth Kee has written numerous books, primarily focused on health education and personal experiences as a family doctor. Some of his notable titles include:
"A Family Doctor's Tale"
This book is a blend of Dr. Kee's personal experiences and his reflections on being a family doctor in Singapore. It's a great choice if you're looking for a narrative that combines both medical knowledge and human stories.
"Specialized Medical Conditions"
Books like **"Congestive Heart Failure: Diagnosis and Treatment"** focus on specific conditions, offering in-dept...