Renal Flashcards

1
Q

Features ARPKD

A

AR- mutation in PKHD1 gene- fibrocystin/polducin (affects cilia of liver/kidney), 1/6,000-10,000

Present in first year of life/perinatally
Can lead to FDIU/Potter
Large kidney, hyperechoic, NO microcysts- mostly distal nephron/CD- dilation
- Progressive interstitial fibrosis, tubular atrophy
- HTN first week of life

Assoc renomegaly & ESRF
- Congenital hepatic fibrosis 45% liver involvement, fibrosis >portal HTN > Carolis disease

Rx: supportive, workup for transplant
70-80% 15yr survival, 30% die in neonatal, liver disease = poor prognisis

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2
Q

Features ADPKD

A

1/400-1000, polycystin 1&2 gene PKD1/2 (2 hit hypothesis = phenotypic variation)- most common heritable kidney disease
Present in 20s/30, <2% before 15

Cysts of variable sizes in cortex and medulla
HTN, poor concentrating ability

Assoc renomegaly & ESRF
Cysts in liver, pancreas, spleen
Intracranial aneurysms- 15%
12% mitral valve prolapse

Rx: supportive, avoid trauma/NSAIDS, ACEi for HTN
Good prognosis if diagnosed in late childhood
CKD by 60s- correlated to degree of HTN

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3
Q

Features simple renal cysts, other solitary masses as DDx?

A

Present in adulthood mostly, 50% >4yrs
Thin walled, no septation/calcification & often solitary/unilateral
25% increase with time and can cause rupture, infection, hemorrhage

Bosniak classification defines risk of malignancy

Rx vasopressin (dec cyst development), rapamycin, somatostatin, ACEi

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4
Q

Features nephronopthisis?

A

AR- 1/80,000, nephrocystins/NPHP1-9 gene (ciliopathy)
- Destruction of tubular BM, glomerular/tubular cysts
Present in childhood/adolescence
Polyuria& polydipsia- NORMAL BP

Juvenile most common (ESRF 13yrs), infantile worst prognosis (ESRF 3yrs), hepatic/cardiac/resp Cx

Assoc: retinitis pigmentosa, situs inversus, skeletal abn
NPHP8 = Joubert- cerebella hypoplasia, polydactyly/ Meckel Gruber- cleft, CNS malf, polydactyly
NPHP2 = infantile form encodes inversin 🡪 has glomerular AND tubular cysts, situs invertus

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5
Q

Features medullary sponge kidney?

A

1/5000-20,000, present usually in 30s
Cysts in CD/medulla
Not assoc renomegaly/ESRF

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6
Q

Features MCDK?

A

Kidney parenchyma replaced by cysts- does not function
Due to non-union of ureteric bud with mesenchyme

L>R, often unilateral (bilat incompatible with life)
Most common cause of abdominal mass

Sx: unilateral flank mass, UTI, haematuria/proteinuria- 1/3 have contralateral PUJ obstruction

Often involute over time
0.3% Wilms tumor transformation

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7
Q

Causes of Potter sequence (and definition)

A

Potter sequence: lack of amniotic fluid (oligohydramnios) + kidney failure

Causes
- Cystic renal dysplasia
- Obstructive uropathy
- Infantile ARPCKD
- Renal agenesis/aplasia (20% of cases)
- Medullary hypoplasia
- Prune belly syndrome (Xlinked abdominal muscle defect, pulm hypoplasia)

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7
Q

Causes of Potter sequence (and definition)

A

Potter sequence: lack of amniotic fluid (oligohydramnios) + kidney failure

Causes
- Cystic renal dysplasoa
- Obstructive uropathy
- Infantile ARPCKD
- Renal agenesis/aplasia (20% of cases)
- Medullary hypoplasia

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8
Q

Associations with horseshoe kidney?

A

Most fused in midline/isthmus
- Turner (7% cases will have)
- Trisomies 21,13,18
- VACTERL
- 4x risk of Wilms tumor

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9
Q

Most common cause of antenatally detected hydronephrosis?

A

PUJ obstruction
- 1/400 births, M>F, 60% L) sided
- Assoc: CHARGE, horseshoe kidney
- Sx: intermittent flank/abdo pain, worse with diuresis
- DTPA scan to investigate

Needs pyeloplasty if split func <40%, increasing HN, symptomatic or patient preference

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10
Q

Renal scans & function

A

DMSA- scarring
DTPA - compare split kidney function, GFR measurement, upper pole obstruction (PUJ)
MCUG- inject dye into bladder via cath, lower pole obstruction (gold standard for VUR)

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11
Q

Medullary Cystic Kidney Disease (ADTKD)

A

AD condition- cysts affecting tubulointerstitium
Slow decline 20-70yrs to ESRF

UMOD gene- most common- gout in teenage years
REN gene mutation- rare, hypotension & CKD
Mucin1- 30% of cases

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12
Q

Outline causes/Ix of hyponatremia?

A
  1. Hypovolemic & appropriate ADH response
    - Decrease in salt > decrease in water
    - GI losses (Na+ pumped into GIT)
    - Diuretic use
    - Renal salt wasting (Bartter/Gittelman, 21-OH, hypoaldosteronism)
    - Cerebral salt wasting (like SIADH with hypovolemia- due to CNA tumor/surg/infec)
    - Exercise, CF with insensible salt losses
  2. Normovolemic & inappropriate ADH
    - Increase in water
    - Resp/CNS disease
    - Hypothyroid, cortisol deficiency
    - AVPR2 mutation
    - Cyclophosphamide, vincristine, valproate, CBZ (^ ADH sensitivity in kidneys)
    - Urine osmol >100 = SIADH
    - Urine osmol <100 = adrenal insuff/polydipsia
  3. Hypervolemic
    - Fluid higher than solute (in ECF)
    - ADH/Aldo activated as low plasma volume
    - Organ failure- oedema, water retention

Pseudo
- Normal body water/sodium
- Excess lipids/proteins
- ie hypertrig/MM

Sx: N&V, cramps, confusion/coma (cerebral oedema)

Rx:
- Hypovolemia= Saline bolus
- SIADH = fluid restrict
- Severe = Hypotonic saline 0.45% (carefully to avoid cerebral pontine myelosis)

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13
Q

Outline causes/Ix hypernatremia?

A
  1. Water loss > Na
    - Diarrhoea (hyperosmolar rehydration), severe burns
    - Decreased intake
    - Impaired thirst
    - DI= decreased ADH: central (hypothalamus), vs nephrogenic
    - Osmotic diuresis
    - Insensible losses, ^ temperature
  2. Gain of sodium
    - Excess ingestion, iatrogenic

Rx:
Central DI = desmopressin
Nephrogenic = thiazide diuretic
Slow correction of fluids (2/3rds maintainence) to avoid cerebral oedema

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14
Q

Nephrogenic vs Central DI test?

A

Differentiate with water deprivation test
- Central: Urine osmolality lower than serum, >50% increase after DDAVP
- Nephrogenic: urine <2x plasma osmolality, minimal increase after DDAVP <9%

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15
Q

Cause of short stature in CKD?

A
  • Elevated GH/resistance
  • Decreased insulin-like growth factor 1 levels and major abnormalities of insulin-like growth factor–binding proteins.

Leads to short stature
If <2SD can trial GH

16
Q

Difference between Bartter & Gitelman Sx?

A

Bartter’s and Gitelman are salt-losing nephropathies resulting in hypokalaemia and metabolic alkalosis
(both AR)

Gitelman (MAg)
- Presents later in life, muscle spasms, nocturia/polyuria
- Blood:, Low Mg2+,
- Urine: High Mg2+, low Ca2+
- Similar to thiazide diuretic- NaCl cotransporter

Bartter
- Present childhood: polyuria & dehydration, FTT
- Blood: High renin/aldosterone & PGE
- Urine: High Ca+
- Similar to loop diuretic NK2Cl
- Nephrocalcinosis

17
Q

Dent’s disease genetics, Sx & Rx?

A

Inherited tubulopathy
X-linked
CLC5/OCRL1 (Lowe)

  1. Prox tubulopathy (RTA2): LMW proteinuria, Fanconi syndrome – glycosuria, aminoaciduria, phosphaturia
  2. Stones & hypercalciuria
  3. Hypophosphatemic Ricketts
  4. ESRF

Rx: Low NaCl, vit D/PO4, replace Na/K/H20

18
Q

Gordon Syndrome

A

Excessive NCCT-mediated salt reabsorption with the clinical picture of pseudohypoaldodosteronism type 2
- Low Na
- High K+

19
Q

Types of RTA

A

ALL have hyperchloremic acidosis

Type 1 = Distal (decreased H+ secretion)
1. Primary: HCO3-Cl cotransporter, H+ pump, carbonic anhydrase deficiency, some may have SNHL
2. Secondary: AIN, amphoB/lithium, Marfan/EDS, SLE/Sjogren

Sx: STONES, high urine pH, , low/N K+, low serum HCO3
Rx: alkali therapy

Type 2 = Proximal (decreased HCO3 reabsorption)
1. Primary: AD- Na/HCO3 cotransporter, AR- carbonic anhydrase 2
2. Secondary: Cystoniosis, PNH, Wilsons, Tyrosinemia, topiramate

Sx: FTT, polyuria, constipation, ricketts
Low urine pH, plasma HCO3 high, low K- worsens with Rx
Rx: alkali therapy

Type 4 = Decreased Aldosterone
1. Primary: eNAC/hypoaldosteronism
2. Secondary: spiro/amiloride

Sx: Polyuria, dehydration, CKD, low urine pH, high K+, high serum HCO3

20
Q

R’ship between WAGR/Denys-Drash

A

Both WT1/PAX6 gene on 11p13 gene
Deletion in:
- WT1 = Wilms (50% chance of tumor)
- PAX6 = Aniridia

WAGR = Wilms, Aniridia, Gu abnormalities, Retardation/dev delay

Denys-Drash = renal nephropathy, Wilm’s, gonadal dysgenesis

21
Q

Prevalence of nocturia at 5,7,15yrs

A

5 yrs = 15%
7yrs = 10%
5% 15yrs
1% adults

22
Q

Most common cause of atypical HUS?

A

50-70% complement gene mutations
- C3, CD46, complement factors- H,B,I