Question

1. An 8-month old male patient is admitted to the pediatric unit with a general diagnosis of failure to thrive. The parents have observed a slowness in the development of motor skills. They also mention the occasional appearance of a substance resembling orange sand in the child's diapers. Urinalysis results are:

   color- yellow	protein- negative	blood: negative
   appearance: slightly hazy	Glucose: normal	Urobilinogen- normal
   Sp. gravity: 1.024	Ketones negative	Nitrite- negative
   pH: 5.0	bilirubin:- negative	Leukocytes- negative

   Microscopic: Many uric acid crystals

   1. Is the urine acid pH consistent with  the appearance of uric acid crystals?

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10 points   

QUESTION 2

1. An 8-month old male patient is admitted to the pediatric unit with a general diagnosis of failure to thrive. The parents have observed a slowness in the development of motor skills. They also mention the occasional appearance of a substance resembling orange sand in the child's diapers. Urinalysis results are:

   color- yellow	protein- negative	blood: negative
   appearance: slightly hazy	Glucose: normal	Urobilinogen- normal
   Sp. gravity: 1.024	Ketones negative	Nitrite- negative
   pH: 5.0	bilirubin:- negative	Leukocytes- negative

   Microscopic: Many uric acid crystals

   2. There is no correlation between the urinalysis results and the substance observed in the child's diaperst Is the urine acid pH consistent with  the appearance of uric acid crystals?

   True

   False

10 points   

QUESTION 3

1. An 8-month old male patient is admitted to the pediatric unit with a general diagnosis of failure to thrive. The parents have observed a slowness in the development of motor skills. They also mention the occasional appearance of a substance resembling orange sand in the child's diapers. Urinalysis results are:

   color- yellow	protein- negative	blood: negative
   appearance: slightly hazy	Glucose: normal	Urobilinogen- normal
   Sp. gravity: 1.024	Ketones negative	Nitrite- negative
   pH: 5.0	bilirubin:- negative	Leukocytes- negative

   Microscopic: Many uric acid crystals

   3. What disorder is indicated by the patient's history and urinalysis results?

   True

   False

10 points   

QUESTION 4

1. An 8-month old male patient is admitted to the pediatric unit with a general diagnosis of failure to thrive. The parents have observed a slowness in the development of motor skills. They also mention the occasional appearance of a substance resembling orange sand in the child's diapers. Urinalysis results are:

   color- yellow	protein- negative	blood: negative
   appearance: slightly hazy	Glucose: normal	Urobilinogen- normal
   Sp. gravity: 1.024	Ketones negative	Nitrite- negative
   pH: 5.0	bilirubin:- negative	Leukocytes- negative

   Microscopic: Many uric acid crystals

   4. The disease is inherited by which mechanism?

   		dominant
   		recessive
   		sex-linked
   		none of the above

10 points   

QUESTION 5

1. An 8-month old male patient is admitted to the pediatric unit with a general diagnosis of failure to thrive. The parents have observed a slowness in the development of motor skills. They also mention the occasional appearance of a substance resembling orange sand in the child's diapers. Urinalysis results are:

   color- yellow	protein- negative	blood: negative
   appearance: slightly hazy	Glucose: normal	Urobilinogen- normal
   Sp. gravity: 1.024	Ketones negative	Nitrite- negative
   pH: 5.0	bilirubin:- negative	Leukocytes- negative

   Microscopic: Many uric acid crystals

   5. The enzyme that is missing is:

   		fumarylacetoacetic acid
   		hypoxanthine-guanine phosphoribosyl transferase
   		aminolevulinic acid synthetase
   		protoporphyrinogen oxidase

Answer 1

Case: Here in this case an 8 mouth old male patient is admitted to the pediatric unit with general diagnosis failure to thrine Parents observed slowners in development of skills especially motor. They also mentioned occasional appearance of orange sand in the childs diapers. Uniwe analysis ave: protein.-ve Glucone - normal color: yellow Appearance: slightly lazy Koloner - ove sp. gravity : 1024 bilirubin --ve Piso blood -ve. Meroscopie analysis: Urobilinogen - normal 9 Many unic and crystals. Mitrite - ve doukocytes. ve a) What disorder is indicated by the patients history and urine analysis results & A) Lesch - Nyhan' syndrome which i mave inborn 3 error of purine metabolism. In the absence of • hypoxanthine - guanine phosphoribosyl transferace (HIPRT) definney pare in nitrogen containing compounds are not built into nucleotides which results in increase in uric and levels.

ay The disease is inherited by which mechanisms > Dominant recessive Sex-linked > none of these. > Lesch - Nyhan Syndrome is inherited as an X-linked necessive genetic disorder that, with have female exceptions, most commonly seen in males. Q Enayme that is missing & Fumaryl auto acetic and typoxanthine - guanine phosphoribory! > Amino levuluvie and synthetase > protoporphyrinogen oxidase. A) Lesch - myhan syndrome is caused by hypox an thine, - quanine phosphoribosyl transferase CHPRT) enzyme defenoney. a) is the urine and PH consistent with appearance of uvie acid crustale 3 s True & False. transferases and synthe tase

- Usually pedeatiles with lesch - ny han oyudrome show grous haematuria Cblood in urine) with increased seek of UTI curinary Tract infections if the pH of urine is highly audic Where pH < 5.0. But here the patient is having PH of so which is not highly audic. So there is low risk for kidney stones to occur. Here in this patient the blood in orine is negative.
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