Ala Case Studies
Case Study #4
A 32-year-old female presented to the Emergency Department because of myalgia, muscle weakness, and severe abdominal pain often associated with nausea. Similar episodes had occurred since she was 18. She also complained of previous bouts of depression. She stated that these symptoms would occasionally disappear, but always returned especially around the onset of her menstrual period. Prior to her current episode, she had been prescribed antibiotics for a urinary tract infection. Routine blood and urine laboratory results were normal as well as a CT scan of her abdomen and pelvis. Two days after admission, the physician was notified by the clinical laboratory that her urine sample had turned a deep red color after sitting …show more content…
on the laboratory bench.
1. What is a likely diagnosis of this patient’s disorder based on the preliminary data?
The likely diagnosis of this patient’s disorder based on the preliminary data provided above is the one of the acute porphyrias. (Bishop, Fody, & Schoeff, 2013)
2.
What additional tests should be performed?
The additional tests that should be performed are the urine ALA and PBG. Both are distinct markers and appear in elevated levels, but may appear within normal ranges between attacks. Electrolytes can also be tested for any abnormalities. Conditions like hyponatremia that occur during the attack can be useful in diagnosing. Hydroxymethylbilane synthase (HMBS) can also be used as a diagnosis tool. (Bishop, Fody, & Schoeff, 2013)
3. What two specific analytes would aid in the differential diagnosis of this patient’s condition?
The specific analytes that would aid in the differential diagnosis of this patient’s condition are ALA and PBG. ALA and PBG are only seen in excess in the urine of a patient suffering from AIP, but not in ADP. (Bishop, Fody, & Schoeff, 2013)
4. Why did this patient not experience cutaneous …show more content…
symptoms?
The patient did not experience any cutaneous symptoms since there was no cutaneous photosensitivity.
If the patient did suffer from cutaneous photosensitivity she would have skin eruptions in response to the sunlight. (Bishop, Fody, & Schoeff, 2013)
5. How would the analysis of fecal porphyrins aid in the differential diagnosis?
The analysis of fecal porphyrins aid in narrowing the diagnosis down to acute intermittent porphyria (AIP) or plumboporphyria (ADP), from the others since they are normal only in these two. (Bishop, Fody, & Schoeff, 2013)
6. Would the Watson-Schwartz test be of use in this case?
Yes, the Watson-Schwartz test is a quantitative test that would be used in this case since it is one of the most common screening tests used for PBG. This principle of this test is based around the PBG developing a red-orange color upon being mixed with Ehrlich’s reagent. The Watson-Schwartz test is an extraction with chloroform or butanol and is used to identify PBG from other substances like urobilinogen or indole. (Bishop, Fody, & Schoeff, 2013)
7. What is the biochemical defect in this case?
The biochemical defect in this case is the decrease in the PBG deaminase.
(Bishop, Fody, & Schoeff,
2013)
References
Bishop, M. L., Fody, E. P., & Schoeff, L. E. (2013). Clinical chemistry: Principles, techniques, and correlations. Philadelphia: Wolters Kluwer Health/Hippincott Williams & Wilkins.
A 32-year-old female presented to the Emergency Department because of myalgia, muscle weakness, and severe abdominal pain often associated with nausea. Similar episodes had occurred since she was 18. She also complained of previous bouts of depression. She stated that these symptoms would occasionally disappear, but always returned especially around the onset of her menstrual period. Prior to her current episode, she had been prescribed antibiotics for a urinary tract infection. Routine blood and urine laboratory results were normal as well as a CT scan of her abdomen and pelvis. Two days after admission, the physician was notified by the clinical laboratory that her urine sample had turned a deep red color after sitting …show more content…
on the laboratory bench.
1. What is a likely diagnosis of this patient’s disorder based on the preliminary data?
The likely diagnosis of this patient’s disorder based on the preliminary data provided above is the one of the acute porphyrias. (Bishop, Fody, & Schoeff, 2013)
2.
What additional tests should be performed?
The additional tests that should be performed are the urine ALA and PBG. Both are distinct markers and appear in elevated levels, but may appear within normal ranges between attacks. Electrolytes can also be tested for any abnormalities. Conditions like hyponatremia that occur during the attack can be useful in diagnosing. Hydroxymethylbilane synthase (HMBS) can also be used as a diagnosis tool. (Bishop, Fody, & Schoeff, 2013)
3. What two specific analytes would aid in the differential diagnosis of this patient’s condition?
The specific analytes that would aid in the differential diagnosis of this patient’s condition are ALA and PBG. ALA and PBG are only seen in excess in the urine of a patient suffering from AIP, but not in ADP. (Bishop, Fody, & Schoeff, 2013)
4. Why did this patient not experience cutaneous …show more content…
symptoms?
The patient did not experience any cutaneous symptoms since there was no cutaneous photosensitivity.
If the patient did suffer from cutaneous photosensitivity she would have skin eruptions in response to the sunlight. (Bishop, Fody, & Schoeff, 2013)
5. How would the analysis of fecal porphyrins aid in the differential diagnosis?
The analysis of fecal porphyrins aid in narrowing the diagnosis down to acute intermittent porphyria (AIP) or plumboporphyria (ADP), from the others since they are normal only in these two. (Bishop, Fody, & Schoeff, 2013)
6. Would the Watson-Schwartz test be of use in this case?
Yes, the Watson-Schwartz test is a quantitative test that would be used in this case since it is one of the most common screening tests used for PBG. This principle of this test is based around the PBG developing a red-orange color upon being mixed with Ehrlich’s reagent. The Watson-Schwartz test is an extraction with chloroform or butanol and is used to identify PBG from other substances like urobilinogen or indole. (Bishop, Fody, & Schoeff, 2013)
7. What is the biochemical defect in this case?
The biochemical defect in this case is the decrease in the PBG deaminase.
(Bishop, Fody, & Schoeff,
2013)
References
Bishop, M. L., Fody, E. P., & Schoeff, L. E. (2013). Clinical chemistry: Principles, techniques, and correlations. Philadelphia: Wolters Kluwer Health/Hippincott Williams & Wilkins.