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Genetic disorders and practical application of genetics in nursing
1. GENETIC DISORDERS AND PRACTICAL
IMPLICATION OF GENETICS IN NURSING
Mrs ARIFA TN
I year M.Sc Nursing, MIMS CON
2. INTRODUCTION
Human is a one of the Almighty’s complex creation. Humans are
made up of trillions of cells and these cells holds the DNA which is
composed of hereditary material. Information stored on DNA is
transferred from one generation to another. Which transfers unique
features from parents to the next generation and so on.
Sometimes DNA has error in its information which cause
different problems like genetic diseases. And these genetic
disorders if transferred to the next generation could be an incurable
disease
3. GENETIC DISORDER
A genetic disorder or a genetic disease is a condition which is
caused by the error in someone’s DNA. And these errors in a DNA
can be of different type, either single base mutation, single gene
or multiple gene or it can involve the addition or subtraction of
entire chromosome causing the genetic disease.
4. CLASSIFICATION OF GENETIC DISORDERS
Genetic disorders due to traditional modes of inheritance.
Mendelian disorders: (Single gene)
a. Autosomal dominant (AD)
b. Autosomal recessive (AR)
c. X-linked recessive (XLR)
d. X-linked dominant (XLD)
5. CLASSIFICATION OF GENETIC DISORDERS
Chromosomal disorders:
a. Numerical abnormalities
b. Structural abnormalities
Multifactorial disorders
Somatic cell mutations
6. Genetic disorders due to non-traditional modes of inheritance.
1. Mosaicism
2. Genomic imprinting
3. Uniparental disomy (UPD)
4. Inheritance of unstable mutations
5. Cytoplasmic/mitochondrial inheritance
8. MENDELIAN (SINGLE GENE) DISORDERS
When a certain gene is known to cause a disease, it is a single
gene disorder or a Mendelian disorder or monogenetic
inheritance.
Disorders caused by a defect in a single gene follow the
patterns of inheritance described by Mendel. Risks within an
affected family are usually high and are calculated by knowing
the mode of inheritance and details of the family pedigree.
9. MENDELIAN (SINGLE GENE) DISORDERS
Some examples of monogenetic disorders include:
cystic fibrosis, sickle cell anemia, Marfan syndrome,
Huntington's disease, and hemochromatosis.
10. AUTOSOMAL DOMINANT DISORDERS
Generally, the autosomal dominant mutations caused faults in the
synthesis of structural or non-enzyme proteins.
These disorders manifest even if only one of the alleles of the
normal gene is affected
11. AUTOSOMAL DOMINANT DISORDERS
Examples of this type of disorder are:
Huntington's disease, neurofibromatosis type 1,
neurofibromatosis type 2, Marfan syndrome, hereditary
nonpolyposis colorectal cancer, and hereditary multiple
exostoses
12.
13. AUTOSOMAL RECESSIVE DISORDERS
Autosomal recessive disorders manifest only in homozygous states,
i.e. both the alleles are mutant genes.
Generally autosomal recessive mutations affect synthesis of enzyme
proteins, leading to inborn error of metabolism.
Examples of this type of disorder are:
cystic fibrosis, sickle-cell disease, thalassemia, Tay-Sachs disease,
Niemann-Pick disease, spinal muscular atrophy, and Roberts syndrome.
14.
15. X-LINKED RECESSIVE DISORDERS
Males have an X and shorter Y chromosome. There may be no
corresponding locus or mutant allele of the X chromosome on the
shorter Y chromosome. The mutant recessive gene on X
chromosome, therefore expresses as a clinical disorder in male
child.
In X-linked recessive conditions only males are affected as there
is no corresponding allele. All his daughters will be carriers as they
receive abnormal X from father.
16. X-LINKED RECESSIVE DISORDERS
X-linked recessive conditions include: the serious diseases
hemophilia A, Duchenne muscular dystrophy, and Lesch-
Nyhan syndrome, as well as common and less serious conditions
such as male pattern baldness and red-green color blindness.
X-linked recessive conditions can sometimes manifest in females
due to skewed X-inactivation or monosomy X (Turner syndrome)
17.
18. X-LINKED DOMINANT DISORDERS
These disorders manifest even in XX females as it is a dominant
gene. The gene is transmitted in families in the same way as X-
linked recessive genes, giving rise to an excess of affected
females.
In some disorders the condition is lethal in hemizygous males. In
this case there will be fewer males than expected in the family, all
of whom will be healthy, and an excess of females, half of whom
will be affected
19. There is no male to male transmission in this pattern of inheritance
Examples of XLD disorders:
Incontinentia pigmenti, orofaciodigital syndrome,
hypophosphatemic familial vitamin D resistant rickets.
20.
21. CHROMOSOMAL DISORDERS
Chromosomal disorders are another type of genetic disorders
which are caused due to an error at chromosomal level. Due to
addition or subtraction of entire gene from the chromosome or
because of structural changes in the chromosomes
Down syndrome, for example, is caused by an extra copy of
chromosome 21 (called trisomy 21), although no individual gene
on the chromosome is abnormal
22. Prader-Willi syndrome, on the other hand, is caused by the
absence or non-expression of a group of genes on chromosome
15.
A specific form of blood cancer (chronic myeloid leukemia, CML)
may be caused by a chromosomal translocation, in which portions
of two chromosomes (chromosomes 9 and 22) are exchanged
23. Chromosomal disorders are further organized into two basic types
Numerical abnormalities :Numerical abnormalities are due to
the missing of one of the chromosome from the pair, condition
called monosomy. Another condition called trisomy in which more
than one chromosome is missing.
Down syndrome is the example of numerical abnormalities in
chromosomes
24. Structural errors
structural errors are due to the change in the structure of a
chromosome. Which can be altered in several ways.
Deletions: A portion of the chromosome is missing or deleted.
Duplications: A portion of the chromosome is duplicated, resulting in
extra genetic material.
Translocations: A portion of one chromosome is transferred to
another chromosome. There are two main types of translocation. In
a reciprocal translocation, segments from two different
chromosomes have been exchanged. In a Robertsonian
translocation, an entire chromosome has attached to another at the
centromere.
25. Inversions: A portion of the chromosome has broken off, turned
upside down, and reattached. As a result, the genetic material is
inverted.
Rings: A portion of a chromosome has broken off and formed a
circle or ring. This can happen with or without loss of genetic
material
Most of the chromosomal disorders occur at conception level
when egg and sperm conceived which is why these kinds of
abnormalities occur at every cell level. And it can be transferred to
the next generation.
26. MULTIFACTORIAL DISORDERS
Inheritance and expression of a phenotype being determined by
multiple gene at different loci and the effects of the genes are
cumulative, with each gene contributing a small amount to the final
expressed phenotype aided by certain environmental factors.
Examples: schizophrenia, asthma, cleft lip and palate, coronary
heart disease, hypertension, neural tube defects, diabetes and
dislocation of hip.
27. SOMATIC CELL MUTATIONS
Some cancers can be inherited as simple Mendelian traits, with
clear patterns of transmission, this is the exception rather than the
rule. Even though most cancers involve quite substantial changes
in the genetic material, such mutations are somatic and there is no
risk to further generations
28. SOMATIC CELL MUTATIONS
Somatic mutation, genetic alteration acquired by a cell that can be
passed to the progeny of the mutated cell in the course of cell
division. Somatic mutations differ from germ line mutations, which
are inherited genetic alterations that occur in the germ cells (i.e.,
sperm and eggs). Somatic mutations are frequently caused by
environmental factors, such as exposure to ultraviolet radiation or
to certain chemicals
29. SOMATIC CELL MUTATIONS
Somatic mutations may occur in any cell division from the first
cleavage of the fertilized egg to the cell divisions that replace cells
in a senile individual. The mutation affects all cells descended from
the mutated cell
32. MOSAICISM
Somatic mosaicism is the term used to describe the finding of two
different cell lines in one individual that are derived from a single
zygote (i.e. coming from a single egg and sperm). It occurs as a
post zygotic event (after fertilization).
The mosaicism may be for (i) chromosomal abnormalities or (ii)
single gene mutations.
33. Chromosomal Mosaicism- It has been recognized in cultured
lymphocytes of patients with chromosomal aneuploidy syndromes.
Eg: Down syndrome, Turner syndrome
Single Gene Mosaicism- Somatic mosaicism for single gene
mutations. Eg: McCune-Albright syndrome (MAS)
34. Germline Mosaicism-It refers to the presence of mosaicism in the
germ cells found in the gonads. The mosaicism may be for
chromosomal abnormality or a single gene mutation. Germ line
mosaicism has been found in Duchenne muscular dystrophy, chronic
granulomatous disease and osteogenesis imperfecta.
35.
36. GENOMIC IMPRINTING
During the last decade, several new mechanisms of genetic
inheritances have been recognized and one such is genomic
imprinting.
Genomic imprinting means that the expression of gene depends
on the parent of origin. The genes are modified during
gametogenesis and as a result either inactivated or activated.
Maternal and paternal sets of genes are not functionally equal.
Some genes are preferentially expressed from maternal or
paternal side.
37. Eg: Prader-Willi syndrome and Angelman syndrome are disorders
due to deletion in the chromosome 15q 11-13 region.
If the deletion is inherited from father, Prader-Willi syndrome will
result and if the deletion is inherited from the mother it results in
Angelman syndrome.
Prader-Willi syndrome- microdeletion on paternal side or
inheritance of both copies from maternal side. Angelman syndrome-
microdeletion on maternal side or inheritance of both copies from
paternal side
38.
39.
40. UNIPARENTAL DISOMY
An individual inherits a pair of homologous chromosomes, one
from the father and the other from the mother. Recent DNA
technology has revealed that an individual may inherit both
homologous chromosomes from only one of his parents and this
situation is called as uniparental disomy.
Eg: Beckwith-Wiedemann syndrome
41.
42. UNSTABLE MUTATION (TRIPLE NUCLEOTIDE REPEATS)
Some genetic conditions are caused by an unusual genetic
change- an expansion of a segment of DNA that contains a repeat
of 3 nucleotides (triple repeat), such as CAGCAGCAG
As the gene is passed from parent to offspring, the number of
triplet repeats may increase. In this way, the condition may worsen
(be more severe) or have an earlier onset from generation to
generation (genetic anticipation)
Eg: Fragile X syndrome, Myotonic muscular dystrophy, Huntington
disease
43.
44. MITOCHONDRIAL INHERITANCE
Mitochondria are intracellular organelles which are ubiquitous in
eukaryotes and are essential for survival
Mitochondrial disorders may be caused by defects of nuclear DNA
or mtDNA.
Nuclear DNA defects may be inherited in an autosomal recessive
or dominant manner
45. MITOCHONDRIAL INHERITANCE
Mitochondrial DNA defects are transmitted by maternal
inheritance. Mitochondrial DNA point mutations and duplications
may be transmitted down the maternal line.
Since egg cells, but not sperm cells keep their mitochondria during
fertilization, mitochondrial DNA is always inherited from the female
parent
46. MITOCHONDRIAL INHERITANCE
Examples of mitochondrial disease include: an eye disease called
Leber's hereditary optic atrophy; a type of epilepsy called MERRF
which stands for myoclonus epilepsy with Ragged Red Fibers; and
a form of dementia called MELAS for mitochondrial
encephalopathy, lactic acidosis and stroke-like episodes.
53. DOWN SYNDROME (TRISOMY 21)
The most common chromosomal disorder (1:800 to 1:1000
newborns).
The chromosome number 21 is present in triplicate.
The origin of the extra chromosome maybe maternal or paternal.
The risk in the newborns is directly proportional to the age of the
mother. As maternal age increases, the risk also increases. Risk is
very high if maternal age is more than 35 yrs
54. DOWN SYNDROME (TRISOMY 21)
BASIC DEFECTS:-
a) Non-disjunction – 95% - All cells carry three copies of
chromosome 21
b) Translocation – 4%- Translocation of the extra chromosome 21 to
another chromosome. (chromososme 14 or 22)
c) Mosaicism – 1%- Some cells have normal number of
chromosomes and some carries extra chromosome
55.
56. CLINICAL FEATURES
General
Mental retardation;
Hypotonia
Cranio-facies
Flat occiput;
Oblique palpebral fissures;
Epicanthic folds;
Speckled iris (Brushfield spots);
Protruding tongue;
Prominent malformed ears;
Flat nasal bridge
Thorax
Congenital heart disease, mainly
septal defect, especially of the
endocardial cushion
CLINICAL FEATURES
57. Abdomen and pelvis
Decreased acetabular and iliac angles;
Small penis;
Cryptorchidism
Hands and feet
Simian crease;
Short, broad hands;
Hypoplasia of middle phalanx of 5th
finger (clinodactyly)
Gap between 1st and 2nd toes (sandal
gap)
Kennedy crease
Other features observed with
significant frequency
High-arched palate;
Strabismus;
Broad, short neck;
Small teeth;
Furrowed tongue;
Intestinal atresia;
Imperforate anus;
Hirschsprung disease
Risk for hypothyroidism and leukemia
58. Common complications
1) Death due to congenital heart disease and lower respiratory tract infection.
2) Chronic rhinitis.
3) Conjunctivitis.
4) Periodontal disease.
Risk of recurrence
Non-disjunction – subsequent chances are 1% in addition to the risk of highmaternal
age.
Mosaicism – if one child is Down, the subsequent chances is 1%.
Translocation – subsequent chances are 5% to 100%
59. MANAGEMENT
A) Principle of genetic counselling
To be given after confirmation of diagnosis.
Both the parents should be present.
Given by a team of physician, geneticist and psychiatrist.
A number of sittings are required.
60. B) Counselling
Explain the parents about the disease, that the child is going to be mentally retarded,
require special schooling.
Explain about congenital heart diseases, other abnormalities, social performances is
good-smiles, laughs (lovable moron), interested in music and mimicry
Counselling about the recurrence risk.
C) Antenatal diagnosis
1) Initial screening with
Maternal serum markers
PAPP-A and beta HCG (human chorionic gonadotropin - in 1st trimester)
Serum alpha fetoprotein (AFP), HCG, unconjugated estriol and inhibin A - in 2nd
trimester
61. Fetal ultrasonography
1st trimester – nuchal translucency and nasal bone
2nd trimester - Increased nuchal fold thickness, short femur and humerus length and
duodenal atresia.
2) Prenatal karyotyping
Chorionic villous sampling – can be carried out between 10 to 12 weeks of pregnancy
(transcervical or transabdominal).
Amniocentesis – on 16 to 18 weeks
Cordocentesis – after 18 weeks
The risk of fetal loss after CVS is 3-4%, after cordocentesis is 3% and after amniocentesis is
0.5-1 %.
62.
63. TURNER SYNDROME (45 X0 OR GONADAL DYSGENESIS)
Karyotype: 45 X0
Incidence: 1:3000 newborns
Genetics: Female with only one X chromosome
64. CLINICAL FEATURES:
The disorders maybe recognizable at birth - *lymphedema of the dorsum of
hands & feet, loose skin folds at the nape of neck.
Short stature, short neck with webbing, low posterior hairline
Face - Anomalous ears, prominent narrow & high arched palate, small
mandible & epicanthal fold
Broad shield-like chest & widely spaced nipples
Increased carrying angle at elbow
Knee anomalies
Short 4th metacarpals & metatarsals
65. CLINICAL FEATURES:
At puberty, sexual maturation fails to occur...primary amenorrhea and they will
be infertile females
Adult height <145 cm
Pigmented naevi, keloid, abnormal nails, puffiness of dorsum of fingers
Mentally normal
Associated congenital defects are common
Kidney – horse-shoe kidney, double or cleft renal pelvis
Heart – coarctation of aorta
Ears – perceptive hearing defect
Congenital lymphedema – usually recedes in early infancy*
68. MANAGEMENT
Height monitoring, cardiac evaluation, BP measurement, ECHO at baseline &
every year is recommended.
Growth hormone therapy to improve height 0.375mg/kg/week daily SC
Ovarian hormone replacement – to elicit increase in height and development
of secondary sex characteristics. 100μg/kg/day ETHINYL ESTRADIOL at 12-
13 yrs of age.
Dose is gradually increased over 2-3 yrs& subsequently cyclical therapy
estrogen-progesterone combination is started
69. MANAGEMENT
Sometimes a Y chromosome may be present in patients with Turner
syndrome. In that case Prophylactic GONADECTOMY is recommended – due
to chances of developing gonadoblastoma
Counselling regarding behavioural problem due to short stature, amenorrhea
and sterility.
Evaluation of thyroid dysfunction. TSH measurement every year.
Regular audiometry
Evaluation of renal malformation by USG
71. CLINICAL FEATURES
Delayed/ incomplete puberty. It is difficult to identify this syndrome in prepubertal males.
Gynaecomastia
Reduced facial and body hair
Infertility
Crytorchidism
Hypospadias
Micropenis
Abnormally tall
High risk of breast cancer and SLE
Learning disabilities and delayed speech and language development
72.
73. TREATMENT
Early identification and anticipatory guidance are extremely helpful; Treatment should address 3
major issues of the disease: hypogonadism, gynecomastia, and psychosocial problems.
1. Androgen therapy
Testosterone replacement should begin at puberty, around age 12 years, and the dose should
increase until it is sufficient to maintain age-appropriate serum concentrations of testosterone,
estradiol, follicle-stimulating hormone (FSH), and luteinizing hormone (LH).
Androgen therapy is used to correct androgen deficiency, to develop secondary sexual
characters, and to improve psychosocial status. Regular testosterone injections can promote
strength and facial hair growth; build a more muscular body type; increase sexual desire;
enlarge the testes; improve mood, self-image, and behavior;
74. TREATMENT
Speech and behavioral therapy
A multidisciplinary team approach can assist in improving speech impairments, academic
difficulties, and other psychosocial and behavioral problems.
In children, early speech and language therapy is particularly helpful in developing skills in the
understanding and production of more complex language.
Males with Klinefelter syndrome should receive a comprehensive psychoeducational
evaluation to assess their areas of strengths and weaknesses. The information obtained from
these evaluations may be helpful in planning appropriate resources and classroom placement
75. TREATMENT
Physical and occupational therapy
Physical therapy should be recommended in boys with hypotonia or delayed gross motor
skills that may affect muscle tone, balance, and coordination. Occupational therapy is advised
in boys with motordisabilities
Treatment for infertility:
Men with Klinefelter syndrome were considered infertile until 1996.Nowadays artificial
reproductive technologies are available like Intracytoplasmic Sperm Injection and IVF More
than 60 children have been born worldwide after successful intracytoplasmicsperm injection
(ICSI) in couples in which the male partner has Klinefelter syndrome.
76. EDWARD’S SYNDROME(TRISOMY 18)
Incidence : 1 in 3000 live births.
It is the second most common autosomal trisomy among live births.
Genetics : Presence of three chromosome in 18 instead of the normal two.
77. CLINICAL FEATURES
Failure to thrive
Severe developmental delay
Hypertonia-extreme rigidity
Head-Microcephaly, dolichocephaly, prominent occiput, strawberry-shaped
head
Face-Small eyes, upturned nose, small mouth, small jaw( micrognathia) ,low
set and malformed ear
Hands
Clenched hands with index finger overlapping middle finger, little finger overlapping ring finger, due to
flexion deformity of fingers
Underdeveloped nails -Simple dermal arches on nearly all digits
Very short fourth digits with a single crease
78. Thorax : Shield-like chest, short sternum
Abdomen: Inguinal or umbilical hernia, part of the intestinal tract is outside the stomach
(omphalocele)
Small pelvis
Rocker bottom feet , prominent calcaneum, short dorsiflexed of first toe
Skin mottling
Heart
Congenital Heart Defects
Ventricular SeptalDefect(90%)
Patent DuctusArteriosus(70%)
Atrial SeptalDefect(20%)
Valvular regurgitation may occur at multiple sites
Coarctation of aorta
80. INVESTIGATION:
To confirm diagnosis
Karyotyping
To diagnose complication
Complete blood count
Urine examination
Chest X-ray
X-ray of bones, cranium,vertebralcolumn,pelvis
ECHO and ECG for congenital heart defects
Ultrasonography of abdomen
81. TREATMENT
Resuscitation is often required at birth. Baby is kept in intensive care unit. -
Poor sucking ability so nasogastric tube is needed
Surgery may be needed to correct defects or abnormalities, eg. Heart defects,
omphalocele, hernia
Access to programs and services as required eg.physical therapy, speech
therapy, educational support, social, vocational, and medical services.
Genetic counseling and joining a support group is recommended
82. COMPLICATIONS:
Spontaneous abortion
Stillbirth
Apnoea
Congestive heart failure
Early infant death
Failure to thrive
Mental retardation
PROGNOSIS:
Prognosis is very bad due to life-threatening medical complications. Mortality rate is high
justbefore and after the baby born. The median survival is about 3 months.
83. TRISOMY 13 / PATAU SYNDROME
Patau syndrome is a syndrome caused by a chromosomal abnormality, in
which some or all of the cells of the body contain extra genetic material from
chromosome 13. The extra genetic material disrupts normal development,
causing multiple and complex organ defects.
Incidence: 1:5000 births.
84.
85. CLINICAL FEATURES
Developmental and physical retardation
Microcephaly with sloping forehead
Holoprosencephaly
Microphthalmia
Coloboma of iris
Retinal dysplasia
Cataract
Malformation of ear
Cleft lip/ cleft palate
Capillary hemangioma
Polydactyly
Congenital heart diseases- VSD, PDA, ASD
86.
87. Diagnosis
Immediately obtain conventional cytogenic diagnosis
Abnormal antenatal ulatasound findings including birth defects and growth restriction
Fluorescent in situ hybridization (FISH) on interphase cells
Cardiac evauation
Management
At previtable gestational ages : MTP should be discussed
Surgical interventions in patau syndrome are generally withheld for the first few months of life
because of the high mortality rates of babies with this condition
88. INBORN ERRORS OF METABOLISM
Inborn errors of metabolism are conditions due to genetic defects related to synthesis,
metabolism, transportation or storage of biochemical compounds
Causes
Most are inherited in an autosomal manner
Some are through X -linked
They can also arise out of spontaneous mutations
89. CLASSIFICATION
Traditional classification include
1.Disorders of carbohydrate metabolism, aminoacid metabolism, organic acid metabolism,
lysosomal storage diseases
In recent decades many more diseases have discovered
2.Disorders of porphyrin metabolism Eg: acute intermittent porphyria
3. Disorders of purine or pyrimidine metabolism Eg: lesch- nyhan syndrome
4. Disorders of steroid metabolism Eg: congenital adrenal hyperplasia
5. Disorders of mitochondrial function Eg: Kearns- Sayre syndrome
6. Disorders of peroxisomal function Eg: Zelweger syndrome
92. DIAGNOSIS
Many diagnostic tests are used for screening
Ferric chloride test … turns colours in reaction to various abnormal metabolites in urine
Ninhydrin paper chromatography ( detects abnormal aminoacid patterns)
Guthrie bacterial inhibition assay
Quantitative plasma aminoacids, quantitative urine aminoacids
Urine organic acids by mass spectrometry
Specific diagnostic tests ( or focused screening for a small set of disorders)
Tissue biopsy or necropsy: liver, muscle, brain, bone marrow
Skin biopsy and fibroblast cultivation for specific enzyme testing
Specific DNA testing
93. MANAGEMENT
Dietary restriction eg: reduction of dietary protein remains a mainstay of treatment for phenylketonuria
and other aminoacid disorders.
Dietary supplementation or replacement eg: cornstarch several times a day helps people with glycogen
storage disease from becoming hypoglycemic as quickly
Vitamins eg: thiamine supplementation benefits several types of lactic acidosis
Intermediary metabolites, compounds or drugs that facilitate or retard specific metabolic pathways
Dialysis
Enzyme replacement
Gene Therapy
Bone marrow or organ transplantation
Treatment of symptoms and complications
Prenatal diagnosis and avoidance of pregnancy or abortion of an affected fetus
94. PHENYLKETONURIA
Phenylketonuria is an autosomal recessive genetic disorder characterized by
a deficiency in the autozome phenylalanine hydroxylase (PAH). This enzyme
is necessary to metabolize the amino acid phenylalanine to the aminoacid
tyrosine. When PAH is deficient , phenylalanine accumulates and is converted
into phenylpyruvate (also known as phenylketone), which is detected in the
urine.
Complications
Left untreated this condition can cause problems with brain development,
leading to progressive mental retardation and seizures
95. CLINICAL MANIFESTATIONS
Early symptoms include
Albinism
Musty odour to baby’s sweat and urine (
due to phenyacetate , one of the ketone
produced)
If untreated
Fail to attain early developmental
milestones
Develop microcephaly
Pregressive impairment of cerebral function
In later life
Hyperactivity
EEG abnormalities
Seizure
Severe learning disabilities
Hypopigmentation
Eczema
96. MANAGEMENT
Diagnosis
HPLC test
Gothrie test
Treatment
Diet low in phenyalanine for the ret of his/ her life
Avoid foods high in phenylalanine such as meat, chicken, fish, nuts, cheese, legumes and
other diary foods
Starchy foods such as potatoes, bread, pasta and corn must be monitored
Infants may still be breast fed to provide all of the benefits of breastmilk though the quantity
must be monitored and supplementation will be required Many diet foods and diet soft drinks
that contain the sweetner aspartame consists of two aminoacids: phenylalanine and aspartic
acid
97. Supplementary infant formulas are used in these patients to provide the aminoacids and other
necessary nutrients that would otherwise be lacking in protein free diet. These can continue in
other forms as the child grows up such as pills, formulas and specially formulated foods.
Since phenylalanine is necessary for the synthesis of many proteins, it is required but levels
must be strictly controlled, usually being limited to 10 grams of protein. More severe forms of
PKU such as CPKU require patients to be restricted to less than 5. Inaddition tyrosine , which
is normaly derived from phenylalanine, must be supplemented
The oral administration of tetrahydrobiopterin ( a cofactor in the oxidation of phenylalanine)
can reduce blood levels of the aminoacid in certain patients.
There are a number of other therapies currently under investigation, including gene therapy
and an injectable form of PAH.
99. PRACTICAL APPLICATION OF GENETIC IN
NURSING
Recent advances in genetic knowledge and technology have impacted all areas of nursing
practices. Application of genetic in nursing is very wide .
All nurses have role in the delivery of genetic services and management of genetic
information.
Nurses require genetic knowledge to identify , support , refer , care for persons
Genetic nursing is practiced in different environment such as maternity , paediatric , medical
surgical nursing and community health nursing
100. MAJOR PRACTICAL APPLICATION OF GENETIC IN NURSING
Understands genetics basis of disease-
Role of different genes in causation of genetic disorders and defects ,Normal and abmormal cell
devision , good or bad genes for health illness continuum.
Early and effective diagnosis of genetic disorder
Contributes towards health promotion with genetic aspects
Prevention of genetic condition
Management and care of genetic disorders
Genetic information and counselling referral services
Social and ethical issues in genetic
102. REFERENCE
1. BRAV KAUR,RAWAT.H.C.TEXTBOOK OF ADVANCEDNURSING PRACTICE.NEWDELHI;JAYPEE
BROTHERS MEDICAL PUBLISHERS ;2015.
2. SONISAMTA .TEXTBOOK OF ADVANCED NURSING PRACTICE.NEWDELHI;JAYPEE;2014.
3. BASHEER P,KHAN Y.A CONCISE TEXTBOOK OF ADVANCED NURSING
PRACTICE.BANGALORE;EMMESS;2013
4. BACHMAN JW. GENETIC DISORDERS. INFAMILY MEDICINE 2003 (PP. 141-148). SPRINGER,
NEW YORK, NY
5. FRAZIER L, MEININGER J, LEA DH, BOERWINKLE E. GENETIC DISCOVERIES AND NURSING
IMPLICATIONS FOR COMPLEX DISEASE PREVENTION AND MANAGEMENT. JOURNAL OF
PROFESSIONAL NURSING. 2004 JUL 1;20(4):222-9.