41. PHENYLKETONURIA.
Defect in enzyme Phenylalanine hydroxylase.
Phenylalanine hydroxylase converts phenylalanine to tyrosine.
Mousy odour to urine.
Ferric chloride tube test – Permanent blue green colour.
42. ALKAPTONURIA.
Defect in enzyme Homogentisic acid oxidase.
Homogentisic acid oxidase converts Homogentisic acid to
Methylacetoacetic acid.
Urine gets darkened on standing at room temperature.
Ferric chloride tube test – Transient blue colour.
Addition of alkali to freshly voided urine – darkening of colour.
Spectrophotometric analysis.
43. CYSTINURIA
Failure of Renal tubules to reabsorb Cysteine.
Sulphur odour .
Cystein crystals- Colorless hexagonal plates.
Cyanide nitroprusside test – Red- purple colour.
44. HOMOCYSTINURIA
Defect in the metabolism of amino acids Methionine.
Sulphur odour.
Silver-nitroprusside test - Red-purple discolouration.
45. MAPLE SYRUP URINE DISEASE.
Defect in enzyme necessary for oxidative decarboxylation of three amino
acids leucine, valine, isoleucine.
Maple syrup odour.
2,4 Dinitrophenylhydrazine test- Yellow precipitate.
46. PORPHYRIAS
Defect in heme synthesis pathway.
Red / Port wine colour to urine.
Ehrlich reaction.
Watson-Schwartz differentiation test.
Fluorescence under ultraviolet in 550-600 nm range.
47. MUCOPOLYSACCHARIDOSES.
Excretion of Dermatan sulfate, Keratan sulfate and heparin sulfate in urine.
Acid albumin test.
Cetyltrimethylammonium bromide test (CTAB).
Metachromatic staining spot test – Blue spot i.e. not washed by addition of
acidified methanol solution.
White
precipitat
e.
48. LESCH- NYHAN DISEASE.
Defective in enzyme hypoxanthine guanine phosphoribosyltransferase.
Accumulation of uric acid throughout the body,
Massive excretion of uric acid crystals in a paediatric patient.
51. Q. The presence of renal tubular epithelial cells
and casts is an indication of:
A. Acute interstitial nephritis
B. Chronic glomerulonephritis
C. Minimal change disease
D. Acute tubular necrosis
52. Q. Differentiation between cystitis and pyelonephritis is
aided by the presence of:
A. WBC casts
B. RBC casts
C. Bacteria
D. Granular casts
53. Q Dysmorphic RBC casts would be a significant finding
with all of the following except:
A. Goodpasture syndrome
B. Acute glomeruonephritis
C. Chronic pyelonephritis
D. Henoch-Schönlein purpura
54. Q. The presence of fatty casts is associated with all
of the following except:
A. Nephrotic syndrome
B. Focal segmental glomerulosclerosis
C. Nephrogenic diabetes insipidus
D. Minimal change disease
55. Q. Broad and waxy casts are most likely associated
with:
A. Nephrotic syndrome
B. Chronic renal failure
C. Focal segmental glomerulosclerosis
D. Acute renal failure
56. Q.The majority of casts are formed in the:
A. Proximal convoluted tubules
B. Ascending loop of Henle
C. Distal convoluted tubules
D. Collecting ducts
57. Q. Cylindroiduria refers to the presence of:
A. Cylindrical renal tubular cells
B. Mucus resembling casts
C. Hyaline and waxy casts
D. All types of casts
58. Q, A structure believed to be an oval fat body produced a
Maltese cross formation under polarized light but does
not stain with Sudan III. The structure:
A. Contains cholesterol
B. Is not an oval fat body
C. Contains neutral fats
D. Is contaminated with immersion oil
Hinweis der Redaktion
It’s a modified Sternheimer-Malbin stain that facilitates differentiation and enhances visualization of formed elements in urinary sediment.