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2020 CPR II Renal Exam 3 > Lecture 5: Acquired and Congenital Tubular Functional Defects & RTA > Flashcards

Lecture 5: Acquired and Congenital Tubular Functional Defects & RTA Flashcards

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1
Q

Fanconi Syndrome is a disease affecting which part of the nephron?

A

Proximal tubules

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2
Q

In Fanconi Syndrome there will be high levels of what in the urine?

A
  • Glucose
  • AA’s
  • Uric acid
  • Phosphate
  • HCO3-
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3
Q

Major clinical features of Fanconi Syndrome?

A
  • Polyuria, polydipsia and hypovolemia
  • Growth failure
  • Hypokalemia
  • Hyperchloremia (due to HCO3- loss)
  • Hypophosphatemia/phosphaturia
  • Glycosuria + proteinuria/aminoaciduria + hyperuricosuria
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4
Q

Hypophosphatemia associated w/ Fanconi Syndrome is responsible for what serious consequence in children and in adults?

A
  • Children = hypophsphatemic rickets
  • Adults = osteomalacia
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5
Q

What type of renal tubular acidosis is due to Fanconi Syndrome?

A

Type 2 renal tubular acidosis

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6
Q

What are 5 acquired causes of Fanconi Syndrome?

A
  • Maleic acid
  • Malignancy
  • Multiple myeloma
  • Nephrotic Syndrome
  • Renal transplantation
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7
Q

What are some medications which can cause Fanconi Syndrome?

A
  • Adefovir and Tenofovir
  • Cisplatin (chemotherapy)
  • Aminoglycosides (i.e., gentamicin)
  • Outdated Tetracycline
  • Valproate
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8
Q

What is the therapy for Fanconi Syndrome?

A
  • Replace substances wasted in urine
  • HCO3- (can use citrate), phosphate + Vit D
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9
Q

Sx’s of Bartter Syndrome are identical to those of pts taking what drugs?

A

Loop Diuretcs

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10
Q

Bartter Syndrome is associated with defective transport where in the nephron?

A

Loop of Henle

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11
Q

How does the neonatal form of Bartter Syndrome present?

A
  • Seen at 24-30 wks of gestation as polyhydramnios; polyuria/polydipsia
  • Hypercalciuria after birth
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12
Q

What is the typical onset and presentation for the “classic” form of Bartter Syndrome?

A
  • No noticeable sx’s until around school age (i.e., kindergarten and above)
  • Present w/ polyuria/polydipsia
  • May also see vomiting and growth retardation
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13
Q

What is used in the treatment of Bartter Syndrome?

A
  • Life-long increases in dietary Na+ and K+
  • Potassium-sparing diuretics
  • NSAIDs
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14
Q

Why are NSAIDs useful in treating Bartter Syndrome?

A
  • PGE2 directly stimulates renin release and contributes to electrolyte abnormalities
  • NSAIDs block and help correct this
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15
Q

Which levels will be elevated in Bartter Syndrome?

A
  • Elevated plasma renin and aldosterone
  • Hyperglycemia
  • Hyperuricemia
  • Increased cholesterol and TAG’s
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16
Q

What is the urine osmolality like in Bartter Syndrome?

A

Isotonic urine

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17
Q

Which acid base disturbance is present in Bartter Syndrome?

A

Hypochloremic metabolic alkalosis

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18
Q

Gitelman Syndrome is due to a defect in which transporter and in which part of the nephron?

A
  • Na+-Cl- Symporter
  • Distal Tubule
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19
Q

When does Gitelman Syndrome typically present?

More severe in which sex?

A
  • Presents in late childhood or adulthood
  • MORE severe in females
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20
Q

Gitelman Syndrome pts have mutations in gene for which cotransporter?

Mimics chronic use of what drug?

A
  • Thiazide-sensitive Na-Cl cotransporter (NCCT)
  • Mimics chronic use of thiazide diuretics
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21
Q

Pts with Gitelman Syndrome may develop what at a later age?

22
Q

What are major lab findings in Gitelman Syndrome?

What type of acid-base disturbance?

Study These Flashcards
A
  • Hypokalemia + Hyponatremia + Hypomagnesemia (may be severe)
  • Hypercalcemia
  • Hypochloremic metabolic alkalosis
  • Hyperglycemia + Hyperuricemia
  • Increased cholesterol and TAGs

*Think about how thiazides work!!!

23
Q

What kind of urine osmolality can you see with Gitelman Syndrome?

Study These Flashcards
A

Dilute or concentrated

24
Q

What is the treatment of Gitelman Syndrome focused on?

Given what?

Study These Flashcards
A
  • Cornerstone = taking in enough NaCl to avoid Na+ depletion
  • Providing K+ and Mg2+ supplementation
  • Aiming for asymptomatic stable hypokalemia and borderline hypomagnesemia
25
Effect of NSAIDs on Gitelman Syndrome?
Ineffective
26
How do calcium levels differ in Gitelman vs. Bartter Syndrome?
- **Bartter** = HYPOcalcemia/hypercalciuria - **Gitelman** = HYPERcalcemia/hypocalciuria
27
How are urine chloride concentration in a pt w/ Bartter or Gitelman Syndrome vs. someone who secretively takes diuretics?
- Typically **\>25 mEq/L** despite volume contraction in the **syndromes** - Pt secretively taking diuretics have **variable** urine chloride concentration
28
Failure to respond to what can aid in the diagnosis of Barterr or Gitelman Syndrome?
- Failure of response to **thiazide** is clue for **Gitelman** syndrome - Failure of response to **loop diuretic** is clue for **Bartter** syndrome
29
In Liddle Syndrome (pseudoaldosteronism) which channel is mutated and in which part of the nephron?
- **ENaC** channels of **principal cells** - Collecting duct
30
Which ion disturbances result in Liddle Syndrome? Leads to what clinical sx, lab values, and acid-base disturbance?
- ↑ **Na+ reabsorption** w/ **K+ loss** - Producing early and often **severe HTN** - Associated w/ **LOW** **plasma renin + LOW aldosterone** - **Metabolic acidosis**
31
Liddle syndrome is treated with what combination?
Low sodium diet + K-sparing diuretics
32
Pseudohypoaldosteronism is caused by failure of what? Leads to what? What are the levels of aldosterone like?
- Failure of response to aldosterone leasing to **renal tubular acidosis** and **hyperkalemia** - Aldosterone levels = **elevated**
33
Therapy for pseudohypoaldosteornism requires large amounts of what?
Sodium
34
What is the primary defect in RTA type 1?
Impaired **distal** H+ secretion
35
What is the urine pH like in RTA Type 1?
Typically **\>5.5**
36
Common secondary causes of RTA Type 1?
Autoimmune disorders (i.e., SLE, Sjogrens and RA)
37
What is the primary defect in RTA Type 2?
Impaired **proximal** HCO3- reabsorption
38
Common secondary causes of RTA Type 2?
- In children as part of **Fanconi's syndrome** - In adults as **mutliple myeloma** or **drugs** (i.e., tenofovir, ifosfamide, gentamicin, outdate tetracycline)
39
What is the primary defect in RTA type 4?
Lack of **aldosterone** or failure of response to it
40
Which plasma value differentiates RTA type 4 from the other two?
**High** plasma **K+**
41
Common secondary causes of RTA type 4?
- Diabetic nephropathy --\> low aldosterone - Chronic interstitial nephritis - **Drugs** --\> ACEIs, ARBs, heparin, NSAIDs, spironolactone, others..
42
Location of defect in RTA type 1 vs. type 2 vs. type 4?
- **Type** **1** = Distal tubules - **Type 2** = Proximal tubules - **Type 4** = Adrenal
43
Which RTA presents with the most severe acidosis?
RTA type 1
44
Which RTA is associated with **urinary stone** formation due to hypercalciuria w/ low urinary citrate and alkaline urine + bone dimineralization?
RTA type 1
45
Which 4 findings sum together to equal renal tubular acidosis?
Acidemia + Normal Anion Gap + Normal Serum Cr + No diarrhea
46
Major consequence of RTA type 1 is low levels of what? Can lead to what clinical problems?
- Low blood **K+** - Leading to **extreme** weakness, irregular heartbeat, and paralysis
47
Untreated RTA type 1 leads to what in chidlren and adults?
- Growth retardation in children - Progressive kidney and bone disease in adults
48
What is given as treatment for RTA type 1?
**Sodium bicarbonate** or **sodium citrate** to tx acidosis
49
Children w/ RTA type 2 would likely receive what as treatment?
**Large** doses of **potassium citrate**, an **oral alkali**
50
In RTA type 4, low aldosterone leads to high K+ and a decrease in the synthesis of what? How does this play a role in the acidosis?
↓ NH3 synthesis by PT ## Footnote \*HCO3- is generated by having NH3 accept H+ --\> NH4 to mainatain acid-base homeostasis
51
What 2 things are done for treatment of RTA type 4?
1. Low **K+** diet and a **loop diuretic** (K+-wasting) 2. **Alter drug doses** and/or **change drugs** (i.e., spironolactone, ACEIs, ARBS, NSAIDs)
52
Which congenital renal tubule disorder of the nephron is associated with increased plasma renin and aldosterone?
Bartter Syndrome

2020 CPR II Renal Exam 3 (26 decks)

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