PBL Case
Physiology
Pathology
100
The name of our patient in the main case this week.
What is Sam Raven?
BONUS point for name of 2nd case on day 1: Chad Janney.
100
This hormone regulates sodium and potassium balance.
What is aldosterone?
100
This condition is associated with pulmonary hypoplasia, retrognathia, and reduced fetal urine output.
What is Potter sequence / syndrome?
200
These are the five conditions that the APGAR test evaluates.
What are: 1) Appearance (color), 2) Pulse (HR), 3) Grimace (reflex response), 4) Activity (muscle tone), and 5) Respiration?
Normal score: 7-10
Score of 4-6: Some assistance for breathing might be required. Baby will continue to be monitored and retested every five minutes for up to twenty minutes.
Score 0-4: Prompt, lifesaving measures.
APGAR tests are at one minute and five minutes - more depending on score.
200
This carrier structure is located at the early PCT, has low affinity, and co-transports 1Na+.
What is SGLT-2?
200
This heart condition is associated with Turner's syndrome.
What is bicuspid aortic valve (or coarctation of the aorta)?
"Bicuspid aortic valve is the most common congenital cardiac malformation in patients with Turner syndrome, resulting from fusion of 2 of the 3 valve cusps."
300
With 21-hydroxylase enzyme deficiency, cholesterol derivatives are increased in this region(s) of the adrenal gland.
What is the zone of reticularis?
300
Decreased renal perfusion stimulates renin secretion in these cells of the kidney.
What are the juxtaglomerular cells?
300
In renal embryology, this derivative of the intermediate mesoderm is associated with horseshoe kidney.
What is the metanephros?
Horseshoe kidney is characterized by the fusion of the inferior kidney poles (part of the metanephros in utero) across the midline. Metanephros gives rise to the definitive kidney and comprises the metanephric blastema and the ureteric bud.
400
The drug class and effect of Florinef.
What is mineralcorticoid receptor agonist that increases reabsorption of sodium and loss of potassium from renal distal tubules?
Fludrocortisone (Florinef) is a corticosteroid used primarily for its mineralocorticoid effects, but also has high glucocorticoid activity. Up-regulates ENaC (distal tubule epithelial cell sodium channel).
Clinical considerations: Due to risk of hypokalemia, periodically monitor serum potassium during therapy; ensure adequate dietary potassium intake as appropriate.
400
ADH acts on this segment of the collecting duct.
What is the medullary segment of the collecting duct?
Antidiuretic hormone acts on the medullary segment of the collecting duct to increase urea and water reabsorption, allowing for the production of maximally concentrated urine.
400
The FSH and LH levels, each, are expected to change in these directions for patients with 47,XXY.
What is increased and increased?
Klinefelter syndrome:
- Dysgenesis of seminiferous tubules -> decreased inhibin B -> increased FSH.
- Abnormal Leydig cell function -> decreased testosterone -> increased LH.
500
These two characterizations distinguish non-classical CAH from classical CAH.
What is late-onset and partial enzymatic defects?
Non-classical CAH (NCCAH): "In milder forms of the disease, also termed “late-onset” or “non-classic” CAH (NCCAH), partial enzymatic defects are overcome by ACTH elevations. These patients have compensated cortisol and aldosterone production."
Classical CAH: "In general, complete or nearly complete enzymatic defects result in overt adrenal insufficiency, and are conventionally referred to as “classic” CAH."
500
ACE inhibitors have these effects on efferent arteriole RPF, GFR, and FF.
What is decreased RPF, increased GFR, and increased FF?
ACE inhibits prevent Angiotensin II from stimulating constriction of the efferent arterioles.
500
This condition is associated with ↓ aldosterone, ↑ 11-deoxycorticosterone, ↓ [K+], and ↓ androgens.
What is 17a-hydroxylase deficiency?
- Deficient enzyme starts with "1" -> HTN
(↑ 11-deoxycorticosterone results in ↑ BP)
- Deficient enzyme ends with "1" -> virilization in females.