hereditary renal diseases, HTN, RTAs

Question 1

Distal RTA: associations, presentation, tx

Answer 1

distal renal tubular cells can’t excrete acid
usually inherited, may be seen with amphotericin
-pts present with vomiting, growth failure, acidosis, nephrocalcinosis
small doses alkali

Question 2

type II RTA

Answer 2

imapred bicarb by the proximal renal tubules

• may be caused by gentamicin, or seen in fanconi syndrome
• causes vomiting, growth failure, acidosis, and muscle weakness

Question 3

fanconi syndrome

Answer 3

proximal RTA, hyperphosphaturia, aminoaciduria, glucosuria, K wasting

Question 4

type IV RTA

Answer 4

transient acidosis in infants and kids

• hyperkalemia is the hallmark
• may be seen in aldo deficiant states
• looks like potassium sparing diuretic, so treat with furosemide

Question 5

Type of acidosis seen in RTA

Answer 5

hyperchloremic metabolic acidosis with normal anion gap

Question 6

evaluation of RTA

Answer 6

• consider when pts present with hyperchloremic metabolic acidosis with normal anion gap
• serum K and phosphorus, urine pH, UA
• urine anion gap- positive urine anion gap seen in distal RTA (it is ammonia)

Question 7

alport syndrome: definition, inheritance

Answer 7

progressive hereditary nephritis secondary to defects in side chains of type IV collagen
usually X-linked dominant

Question 8

clinical features of alport syndrome

Answer 8

• HTN, hematuria, ESRD esp. in males
• hearing loss
• ocular abnormalities of the lens and retina

Question 9

autosomal recessive polycystic kidney disease

Answer 9

• oligohydramnios, and possibly pulmonary hypoplasia
• enlarged kidneys
• severe HTN
• variable liver involvement

Question 10

autosomal dominant polycystic kidney disease

Answer 10

variable findings
check for cerebral aneurysms
may also have flank pain/mass, HTN, UTI