[CM] METABOLIC DISORDERS + RENAL DISEASES

Overflow type

type of aminoaciduria:

INCREASED amino acid in blood

INCREASED amino acid in urine

Renal type

type of aminoaciduria:

NORMAL amino acid in blood

INCREASED amino acid in urine

-- Due to defective tubular reabsorption

Overflow type

Overflow or Renal type

- PKU, MSUD, Cystinosis

Renal type

Overflow or Renal type

- Cystinuria, Fanconi's syndrome

Phenylketonuria (PKU)

the most well known aminoaciduria

phenylalanine hydroxylase

in phenyketonuria, there is an absence of the gene that codes for what enzyme

mousy

urine odor which suggests Phenylketonuria

Phenylketonuria (PKU)

Guthrie bacterial inhibition test is a screening test for what metabolic disorder

positive growth of B. subtilis

What indicates a positive result in the Guthrie Bacterial Inhibition test

ion exchange HPLC

Confirmatory test for phenylketonuria

FeCl3 tube test = (+) blue green

Phenistix strip = (+) gray to gray-green

other screening tests for PKU and the corresponding positive result

Tyrosyluria or Tyrosinemia

Rancid butter odor of urine

Rancid butter

Urine odor in Tyrosinemia

1: Fumarylacetoacetate hydrolase (FAH)

2: Tyrosine aminotransferase

3: p-hydroxyphenylpyruvic acid dioxygenase

In tyrosinemia there is an absence of the gene that codes for

TYPE 1:

TYPE 2:

TYPE 3:

tyrosinemia

Nitroso-naphtol is a screening test for what metabolic disease

(+) orange red

homogentisic acid oxidase

Enzyme deficient in Alkaptonuria

ALKALINE

in alkaptonuria urine becomes dark after becoming __________

Air exposure

in melanuria, urine darkens upon ___________________

alkaptonuria

"brown- or black stained cloth diapers"

vitamin C

treatment of alkaptonuria

ochronosis

deposition of black pigment in the ears of people with alkaptonuria

alkaptonuria

silver nitrate test is a screening test for what metabolic disorder

melanuria

Caused by melanoma wherein tumors secrete 5,6-dihydroxyindole (oxidizes melanogen to melanin)

albinism

deficient production of melanin results in ______________

Melanuria

sodium nitroprusside test and Ehrlich test is a screening test for what metabolic disorder

Maple Syrup Urine Disease (MSUD)

most common inborn error of metabolism in the Philippines

branched chain a-keto acid dehydrogenase (BCKD)

enzyme complex that is absent in MSUD

MSUD

2,4-dinitrophenylhydrazine (DNPH) is a screening test for ______________

(+) yellow turbidity/precip

Leucine

Isoleucine

Valine

in MSUD, there is increased ketoacids of (3)

Caramelized sugar, curry, maple syrup

urine odor in MSUD

isovaleric acidemia

sweaty feet odor

sweaty feet

odor caused by Isovaleric acidemia

hartnup disease

indicanuria is seen in what disease

hartnup disease

Blue diaper syndrome is associated with

indicanuria

Indigo blue urine color upon air exposure

indicanuria

obermayer's test is a screening test for

(+) violet

argentaffinoma

tumor of argentaffin or enterochromaffin cells -- produce serotonin -- metabolized into 5-HIAA

5-HIAA

metabolite of serotonin, seen in argentaffinoma

bananas

pineapples

tomatoes

++ AVOCADO

patients to be tested for argentaffinoma must not eat the following for 3 days

Phenylketonuria

Tyrosinemia

Alkaptonuria

Melanuria

Phenylalanine-Tyrosine Disorders (4)

MSUD

Organic Acidemias

Branched-Chain Amino Acid Disorders

Indicanuria

Argentaffinoma

tryptophan disorders (2)

cystinuria

cystinosis

homocystinuria

Cystine disorders

sulfur

urine odor of cystine disorders

D-penicillamine

treatment for cystine disorders

COLA (cystine, ornithine, lysine, arginine)

In cystinuria, there is defective tubular reabsorption of:

Cystinosis

overflow type of cystine disorder that is characterized with cystine deposits in many areas of the body

homocystinuria

Defects in metabolism of the amino acid methionine produce an increase in homocystine throughout the body

cystathione B-synthase

enzyme deficient in homocystinuria

cyanide nitroprusside

what is the reagent in Brand's modification of legal's nitroprusside (test for cystinuria and cystinosis)

(+) red purple color

red or portwine

urine color in porphyrin disorders (porphyrias)

colorless

urine color in lead poisoning

hurler syndrome

hunter syndrome

sanflippo syndrome

mucopolysaccharide disorders

hurler syndrome

Gargoylism

MPS type I (accumulation of MPS in the cornea)

hunter syndrome

MPS Type II

Sex linked recessive

Sanflippo syndrome

MPS type III

Sanflippo syndrome

which type of MPS is characterized with mental retardation as is only abnormality

acid albumin

5% CTAB

MPS paper test

screening tests for MPS

white turbidity

POSITIVE RESULT in 5% Cetyltrimethylammoniumbromide CTAB (screening test for MPS)

blue color

POSITIVE RESULT in MPS Paper test / Metachromatic staining spot test (screening for MPS)

molecular analysis

confirmatory for MPS

Lesch-Nyhan syndrome

purine disorder

Hypoxanthine-guanine phosphoribosyltransferase (HGPRT)

enzyme deficient in lesch-nyhan syndrome

Lesch-Nyhan syndrome

purine disorder characterized with high uric acid in blood and urine -- ORANGE SAND IN DIAPERS

melituria

presence of any sugar in urine

(-) Glucose strip

(+) Copper reduction test

In carbohydrate disorders, it is characterized with:

(+/-) Glucose strip

(+/-) Copper reduction test

GALT (Galactose-1-phosphate uridyl transferase)

GALK (galactokinase)

GALE (UDP-galactose-4-epimerase)

Enzymes absent in galactosemia

galactosemia

inability to metabolize galactose

INCREASED: galactitol, galactonate and galactose-1-phosphate

Associated with liver dse, cataracts and severe mental retardation

Hematuria

RBC Cast

Proteinuria

In glomerular disorders, these 3 findings are prominent

acute post streptococcal glomerulonephritis

Deposition of immune complex, formed in conjunction of Group A Streptococcus infection on the glomerular membranes

(+) ASO and Anti-DNase B

Rapidly progressive Glomerulonephritis

Deposition of immune complexes from systemic immune disorders on the glomerular membrane

-- formation of CRESCENTS inside the bowman's capsule

Goodpasture Syndrome

Deposition of antiglomerular basement membrane antibody to glomerular and alveolar basement membranes

Wegener's granulomatosis

Anti-neutrophil cytoplasmic antibodies (ANCA) binds to neutrophils in vascular walls -- damaged small vessels in lungs and glomerulus

ethanol

perinuclear ANCA forms when neutrophils are fixed in

formalin

cytoplasmic ANCA forms when neutrophils are fixed in

Henoch-Schonlein Purpura

Occurs primarily in children following viral respiratory infections; a decrease in platelets disrupts vascular integrity

Membranous Glomerulonephritis (MGN)

Thickening of the glomerular membrane following IgG immune complex deposition associated with systemic disorders

Membranoproliferative Glomerulonephritis (MPGN)

Cellular proliferation affecting the capillary walls or the glomerular basement membrane

"TRAM TRACK" appearance

Chronic Glomerulonephritis

Marked decrease in renal function resulting from glomerular damage precipitated by other renal disorders

"silent killer"

IgA nephropathy (Berger disease)

Deposition of IgA on the glomerular membrane resulting from increased levels of serum IgA

Minimal change disease (lipoid nephrosis)

Disruption of the podocytes occurring primarily in children following allergic reaction and immunization

Minimal change disease

Nil disease

Minimal change disease

associated with HLA B12 antigen

Focal Segmental Glomerulosclerosis (FSGS)

Disruption of podocytes in certain numbers and areas of glomeruli, others remain normal

-- Evident IgM and C3

Diabetic Nephropathy

Most common cause of end stage renal disease

Diabetic Nephropathy

Kimmelstiel-Wilson Disease

Diabetic Nephropathy

deposition of glycosylated proteins on the glomerular basement membrane caused by poorly controlled blood glucose levels

Alport syndrome

genetic disorder showing LAMELLATED and THINNING of glomerular basement membrane

(+) Giant platelets

Nephrotic syndrome

Disruption of the electrical charges that produce the tightly fitting podocyte barrier resulting in MASSIVE LOSS of PROTEINS and LIPIDS

>3.5 g/day

rate of proteinuria in nephrotic syndrome

MCD (in children)

MGN (in adults

FSGS

MPGN

nephrotic syndrome occurs in patients with (4)

nephrotic syndrome

glomerular disease with increased OVAL FAT BODIES in the urine

chronic glomerulonephritis

Glomerular disorder: (+) WAXY AND BROAD CAST

odorless

Urine odor in Acute Tubular Necrosis

acute tubular necrosis

damage to renal tubular cells caused by ischemia or toxic agents

(+) RTE cells, RTE casts

Uromodulin-associated Kidney Disease (UKD)

Inherited defect in the production of normal uromodulin by the renal tubules and increased uric acid causing gout (self destruction of RTE cells)

fanconi syndrome

generalized failure of tubular reabsorption in the proximal convoluted tubule

cystine crystals

crystal possibly found in fanconi syndrome

Neurogenic DI

type of DI

hypothalamus fails to produce ADH

Nephrogenic DI

Type of DI

Renal tubules fail to respond to ADH