Tutorial 22 August.

 

22 August 2024.                                      Role-players:     1. Banaz. Megha.

                                                                                             2. Christi. Kirat.

37	Role-play. Explain complaint procedures to FY1	22	Aug
38	Role-play. Pre-pregnancy counselling. Father has FXTAS	22	Aug
39	EMQ. Phenylketonuria	22	Aug

 

Role-play 1. Teach an FY1 about complaint procedures.

Abbreviations.

FY1.       foundation year 1.

Candidate’s instructions.

You are an SpR5 and in charge of the labour ward. It is a quiet day. Dr. Kean is a new FY1 who has asked the on-call consultant about complaint procedures and the consultant has delegated the task to you.

 

Role-play 2.

Candidate’s instructions will be sent a few minutes beforehand – I hope I remember this time!

 

Question 1. Phenylketonuria.

Abbreviations.

PA:           phenylalanine.

PAH:        phenylalanine hydroxylase.

PAHD:     phenylalanine hydroxylase deficiency.

PKU:         phenylketonuria  .

Option list.

A	autosomal dominant
B	autosomal recessive
C	X-linked dominant
D	X-linked recessive
E	1 in 100,000
F	1 in 50,000
G	1 in 10,000
H	1 in 5,000
I	deficiency in phenylalanine hydroxylase
J	deficiency in phenylalanine oxidase
K	deficiency in phenylalanine transferase
L	deficiency in phenylketone hydroxylase
M	deficiency in phenylketone oxidase
N	raised PA levels
O	reduced PA levels
P	raised tyrosine levels
Q	reduced tyrosine levels
R	normal tyrosine levels
S	No
T	Yes
U	unknown

Question 1.        What is PKU? Write your answer – there is no option list.

Question 2.        What is PKU due to? Use the option list.

Question 3.        What levels of PA and Tyr are typical in PKU? Use the option list. This is not a real EMQ

as there are two answers.

Question 4.        Is PKU subdivided into different categories? If “yes”, what are the categories? Write

your answer – there is no option list.

Question 5.        Which, if any, of the following statements are true about hyperphenylalaninaemia?

This is not a true EMQ as more than one answer may be correct.

Option List

A	it blocks growth hormone
B	it destroys astrocyte miosis
C	it disrupts folic acid activity
D	it enhances vitamin A activity
E	it interferes with myelin synthesis
F	it negates the effects of vitamin C
G	nobody knows, nobody cares; especially me

Question 6.        How is PKU inherited? Use the option list.

Question 7.        Which chromosome houses the gene related to PKU transmission?

Question 8.        How many mutations of the gene related to PKU have so far been identified?

Question 9.        Is a person with PKU likely to have one or two mutations of the PKU gene?

Question 10.    What is BH4?

Question 11.    What is pegvaliase?

Question 12.    What is the approximate prevalence of PKU in Caucasians?

Question 13.    What is the approximate prevalence of PKU carrier status in Caucasians?

Question 14.          The prevalence of PKU varies between ethnic groups. Match each of the following ethnic groups to the closest prevalence given in the option list.

Question 15.    Which, if any, of the following are characteristic of PKU?

Option list.

A	alopecia
B	angst
C	facial dysmorphism
D	facial hair in females and pre-pubertal males
E	kyphosis
F	macroorchidism in post-pubertal males

Question 16.    Are fetal PA levels higher or lower than maternal?

Question 17.    Which, if any, of the following  are true in relation to the maternal PKU syndrome?

This is not a true EMQ as there may be more than correct answer.

Option list.

A	asymptomatic bacteruria is more common
B	cholestasis of pregnancy is more common
C	early onset gestational hypertension is more common
D	eczema is more common
E	gallstones are more common
F	miscarriage is more common
G	MPKUS is usually due to non-adherence to a low phenylalanine diet
H	porphyria is more common
I	reversible posterior cerebral syndrome is more common
J	urinary tract urea stones are more common
K	none of the above

Question 18.    What are the main consequences for the offspring of untreated maternal PKU?

Question 19.    Is neonatal screening for PKU routine in the UK?

Question 20.    The test for PKU used to be known by the name of its inventor. Who was he and why

did he have a particular interest? There is no option list and no one is going to ask you except me!

Question 21.     What conditions are covered in the routine neonatal ‘heelprick’ screening test?

Question 22.    Is neonatal screening for PKU still done using the bacterial inhibition method? If not,

what method is used? There is no option list.

Question 23.    What is the main treatment of PKU and what are its problems?

Question 24.    How long should the main treatment of PKU be continued and why?

Question 25.    A woman with PKU is planning her first pregnancy at the age of 22. She has been off

the PKU-restricted diet since the age of 10 and can barely remember being on it. Should she be advised to re-start the diet? If ‘yes’, when should she start and what explanation would you give for the advice?

Question 26.    Which if any of the following statements are true about screening for PKU and its

effects in the neonate born to a woman with PKU ?

Option list.

A	routine bloodspot screening alone is required
B	the neonate should be examined by a paediatrician for signs of PKU
C	the baby should have developmental assessment, even if it does not have PKU
D	an ultrasound scan should be done because of the increased risk of developmental dysplasia of the hip
E	the baby should be started on a low PA diet until all assessments are complete
F	none of the above.

Question 27.    Is breast-feeding advisable for women with PKU?

Question 28.    Are any other therapeutic approaches available? If ‘yes’, what are they and how do

they work? If ‘yes’ use the option list for the mode of action.

Option List

A	it binds PA to circulating plasma proteins, reducing its free levels
B	it increases hepatic metabolism of PAH.
C	it increases renal excretion of PA
D	it is a co-factor for PAH, increasing its efficacy in reducing PA levels
E	it is phenylalanine ammonia lyase, capable of breaking down PA
F	it is a synthetic PAH enzyme
G	it reduces absorption of PA from the small bowel

Question 29.    Is PIGD for PKU available on the NHS? Yes / No?

Question 30.    Which organisation regulates PIGD in the UK?

 

TOG CPD questions. These are open-access, so reproduced here.

Regarding phenylketonuria (PKU):

1.        it is a deficiency of the amino acid phenylalanine (Phe).                       True  False

2.        it is an X-linked recessive inherited metabolic disease.                         True  False

3.        it results in a deficiency in the amino acid tyrosine.                              True  False

4.        it is treated with a low-phenylalanine restricted diet.                           True  False

5.        the incidence is approximately 1:1000.                                                    True  False

6.        the Newborn Screening Programme has been a great success in the diagnosis and management of children with PKU.                                               True  False

7.        neonates with fetal alcohol syndrome and PKU are clinically difficult to distinguish at birth.                                                                                                                             True  False

8.        in utero exposure to very high levels of phenylalanine results in reversible neurological damage to the fetus.                                                                                     True  False

9.        pregnancy outcome is improved substantially when treatment results in low maternal phenylalanine concentrations ideally before conception.                                       True  False

10.      oral methods of contraception should be switched to barrier methods at least 12 months before conception.                                                                               True  False

11.      the risk of congenital heart defects is estimated to be 7–10%.           True  False

12.      it is an indication for early delivery by caesarean section.                    True  False

13.      neonates born to mothers with PKU should be offered screening for PKU as per the routine national screening programme.                                                                  True  False

14.      breastfeeding is contraindicated in women with PKU.                          True  False

With regard to the biochemistry of PKU:

15.      Phe is passively transported across the placenta.                                  True  False

16.      fetal Phe levels are approximately 1.25-2.5 times > than maternal levels.      True  False

Children born to women with PKU:

17.      tend to have blue eyes.                                                                               True  False

18.      are fair skinned.                                                                                            True  False

With regard to the effect of high Phe levels on loss of IQ or behavioural changes:

19.      these changes are reversible in utero.                                                      True  False

20.      they are reversible with resumption of diet deficient of Phe.              True  False