Renal Flashcards

Question

How does Alport syndrome present and progress?

Answer 1

``` Incidental microscopic haematuria or episode of macroscopic haematuria Deafness around 10 years Hypertension in mid teens Eye signs in mid-late teens Average age for ESRF is 21 years ```

Answer 2

``` Acute abrupt onset of often severe pain Early puberty Swelling of testis and hemiscrotum often with erythema/discolouration Negative urinaylsis Needs urgent surgery ```

Answer 3

``` More common than testicular tosion Subacute onset of pain over hours Pre pubertal Localised pain at upper pole of testis Can be managed conservatively but difficult to distinguish from torsion of testicle ```

Answer 4

Gradual insidious onset of discomfort or pain Adolescence Epididymal tenderness Urinalysis often positive

Answer 5

Defect in reabsorption of, and hence excessive excretion of, cystine, ornithine, arginine and lysine

Answer 6

Recurrent urinary stone formation which are extremely hard and densely radio opaque

Answer 7

high fluid intake and alkalinisation or urine with oral potassium citrate

Answer 8

PEX gene on the X chromosome

Answer 9

Isolated defect in phosphate reabsorption

Answer 10

ALP rises before phosphate becomes low | Causes delayed growth, rickets, delayed dentition and dental abscesses

Answer 11

Supplementation

Answer 12

Failure to reabsorb filtered HCO3 but can still acidify urine

Answer 13

Faltering growth Vomiting Short stature

Answer 14

High doses of alkali

Answer 15

AR defect in transport of cystine out of lysosomes

Answer 16

Fanconi syndrome Photophobia Hypothyroidism

Answer 17

``` Renal failure at 8-10 years Pancreatic involvement with DM Liver involvement with hepatomegaly Reduced fertility Neurological deterioration and cerebral atrophy ```

Answer 18

○ Cystine crystals in cornea on slit lamp Peripheral blood white cell cystine level Antenatal diagnosis possible

Answer 19

Supportive - supplements, high fluid intake Cysteamine, which increases cystine transport out of lysosome Indometacin reduces GFR and hence helps with severe polyuria and secondary polydipsia, and electrolyte wasting

Answer 20

Inflammation of the glomeruli leading to: - Haematuria and/or proteinuria - Nephrotic syndrome - Acute nephritic syndrome - Rapidly progressive crescentic glomerulonephritis

Answer 21

Normal complement: - FSGS - IgA nephropathy - HSP Reduced complement - Acute post-streptococcal - Mesangiocapillary GN - SLE - Shunt nephritis

Answer 22

Inborn AR defect in the sodium/potassium/chloride co transporter in the thick ascending limb, leading to sodium chloride and water wasting

Answer 23

``` Polyuria Polydipsia Episodes of dehydration Faltering growth Constipation Maternal polyhydramnios ```

Answer 24

Hypochloraemic hypokalaemic alkalosis Inappropriately high levels of urinary chloride and sodium Normal or high urinary calcium

Answer 25

Potassium supplementation and indometacin

Answer 26

Same plasma biochemistry with low chloride and potassium but inappropriately low levels of urine chloride and sodium

Answer 27

Cystic fibrosis Congenital chloride diarrhoea Laxative abuse Cyclical vomiting

Answer 28

Oedema Proteinuria Hypoalbuminaemia

Answer 29

``` Minimal change disease FSGS Mesangial proliferative glomerulonephritis Membranous nephropathy SLE ```

Answer 30

Infections with encapsulated bacteria Thrombosis Hypovolaemia Drug toxicity

Answer 31

``` Steroids for initial presentation Steroids for first relapse For frequent relapses -Cyclophosphamide -Tacrolimus -Cyclosporin -Mycophenolate mofetil -Levamisole Refer to renal service if steroid resistant ```

Answer 32

Inborn AR defect in the distal tubule sodium and chloride cotransporter

Answer 33

Often asymptomatic | Or, transient episodes of tetany and weakness with abdominal pain and vomiting

Answer 34

Hypokalaemic metabolic alkalosis Raised renin and aldosterone Hypomaynesaemia Hypocalciuria (distinguishes from Bartter, where there is normal or high urinary calcium)

Answer 35

Ureters are displaced laterally and enter directly into the bladder rather than at an angle, with a shortened or absent intramural course

Answer 36

reflux during bladder filling and voiding with distended ureter, renal pelvis, and clubbed calyces High risk of renal scarring

Answer 37

Urine returning to the bladder from the ureters after voiding results in incomplete bladder emptying, which encourages infection Kidneys may become infected with intrarenal reflux especially Bladder voiding pressure is transmitted to the renal papillae, which may contribute to renal damage if voiding pressures are high

Answer 38

Generalised proximal tubular dysfunction

Answer 39

``` Polydipsia and polyuria Salt depletion and dehydration Hyperchloraemic metabolic acidosis Rickets Failure to thrive/poor growth ```

Answer 40

``` Amino acids Glucose Phosphate Bicarbonate Sodium Calcium Potassium Urate ```

Answer 41

``` Cystinosis Glycogen storage disorders Lowe syndrome (oculocerebrorenal dystrophy) Galactosaemia Fructose intolerance Tyrosinaemia Wilson disease ```

Answer 42

Heavy metals Drugs and toxins Vitamin D deficiency

Answer 43

Acute renal failure Microangiopathic haemolytic anaemia Thrombocytopenia

Renal Flashcards

(68 cards)