solved

For my Urinalysis class, I had to list five metabolic disorders related to kidney function. I had to include the chemical examination results, microscopic examination, what the defect was as well as the outcome or prognosis. I am unsure if I have done this assignment correctly and I struggled with it.
Could someone tell me if there are any mistakes please, especially in the examination/results?

Cystinuria
Chem strip: Likely Acidic pH, Blood + possible, possible WBC since UTIs can be a consequence of the disease but WBCs alone would not be a significant indicator
Microscopic: Cysteine crystals
Defect: Inability of renal tubules to reabsorb cystine that’s filtered by the glomerulus
Outcome: Not reversible given that Cystinuria is an autosomal recessive disorder with mutations to the SLC3A1 and SLC7A9 genes.
Note: Inherited disorder with two types. One type only effecting cystine and the other affecting cystine, lysine, arginine, and andornithine

Tyrosyluria
Chem strip: pH likely Alkaline
Microscopic: Tyrosine crystals
Defect: FAH gene mutation, inability to properly metabolize the amino acid Tyrosine
Outcome: Like other inherited disorders, it is not reversible. Many newborns die within weeks of first symptoms without treatment, but low-protein diets and the drug Nitisinone can be used to manage the condition.
Note: Can begin as tyrosinemia (accumulation of tyrosine in plasma) resulting in urinary overflow. Rancid odor sometimes associated with this condition
Galactosuria
Chem strip: Neg. glucose but positive clinitest
Microscopic: No clinically significant microscopic elements present in urinary sediment (??)
Defect: Galactose-1-phosphate uridyltransferase (GALT) deficiency. Inherited metabolic disorder that prevents proper metabolism of galactose into glucose
Outcome: Can be life-threatening to newborns. Can result in failure to thrive, cataracts, mental retardation.
Notes: can be discovered via routine NBS (newborn screen)

Lesch-Nyhan disease
Chem strip: Acidic pH
Microscopic: Uric Acid crystals
Defect: Defective purine metabolism
Outcome: Inherited sex-link recessive. Irreversible. Manifests in metnal retardation, renal calculi, gout, renal calculi, and severe motor defects.
Note: Many infants will present with an “orange sand” in diaper.

5. Hunter
Chem strip: pH maybe be acidic
Microscopic: Sulfate crystals may be observed in the urine (heparin sulfate, dermatan sulfate or keratan sulfate)
Defect: Inability to properly metabolize glycoaminoglycans, results in polysaccharides accumulation in connective tissue
Outcome: Skeletal deformation and mental retardation. Irreversible syndrome. Often fatal in childhood without treatment of gene therapy or bone marrow transplantation.
Note: Inherited sex-linked disorder that is rarely seen in females

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