ACUTE REAL FAILURE (ARF).[1]

Acute renal failure is defined as an abrupt decline in renal function with increased creatinine and blood urea nitrogen levels (BUN) over a period of several days. There are three main categories of ARF:

1)    Pre-renal azotemia :decreased renal perfusion causes a decreased glomerular filtration rate. In response, the kidney acts to retain salt and water in an attempt to increase blood pressure and perfusion.

2)    Intrinsic renal failure: generally due to acute tubular necrosis, which leads to obstruction of renal tubules with necrotic debris and subsequent fluid backflow with decreased GFR. In this setting the damages renal tubules are unable to retain salt and water.

3)    Post-renal azotemia: caused by outflow obstruction and can only occurs when such obstruction is bilateral. In this setting there is also backflow to fluid with decreased GFR.

Variable	Prerenal	Renal	Postrenal
Urine osmolality	>500	<350	<350
Urine Na	<10	>20	>40
FE Na	<1%	>2%	>4%
BUN/Cr Ratio	>20	<15	>15

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[1] (Le, Bhushan, Tolles, & Hofmann, 2011)

HYDATIDIFORM MOLE[1]:

A hydatidiform mole is a noninvasive tumor caused by aberrant fertilization , leading to cystic swelling of chorionic villi and proliferation of the trophoblast. It result in a mass that can look like a “cluster of grapes”. Hydatidiform Mole can be complete or partial. The genotype of a complete moles is usually 46,XX, completely consisting of paternal DNA. It result when two sperm fertilize an empty egg. There is no associated fetus despite the eleveted levels of β-human chorionic gonadotropin.

The genotype 46,XX, maternal would not cause a hydatidiform mole. Mole are derived from empty ova that are then fertilized by sperm. 46,XX maternal and paternal describe a genotype of a normal fetus, receiving one set of chromosomes from each parent.

69, XXX; 69 XXY or 69 XYY, maternal and paternal describe another posible DNA make up of a partial mole. A partial mole contains more than two set of chromosomes thet usually consist of two paternal and one maternal, or consist of  both paternal and maternal set, resulting in triploidy or tetraploidy. Partial moles may present with a similar grape like mass and are associated with fetal parts.

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[1] (Le, Bhushan, Tolles, & Hofmann, 2011)

BIOCHEMISTRY: METABOLIC DISORDERS.

Pyruvate dehydrogenase deficiency	Congenital or acquiered (as in alcoholic due to B1 deficiency)		Neurologic defect, Lactic acidosis	Increase intake of ketogenic nutrients (high fat content or ↑ lysine/leucine)
Gkucose-6-phosphate dehydregenase deficiency	X-linked recessive	Most common human enzyme deficiency,more prevalent among black, ↑malarial resistance	↓NADPH in RBCs leads to hemolytic anemia. Heinz bodies, Bite cells
NADPH oxidase deficiency	Chronic granulomatous disease	Defect in microbicidal activity of neutrophils	Marked susceptibility to opportunistic infections	Diagnosis with negative nitroblue tetrazolium dye reduction test
Fructokinase deficiency	Essential fructosuria Autosomal recessive	Bening-milder symptoms than analogous disorder of galactose metabolism	Fructose appear in blood and urine
Aldolase B deficieny	Fructose intolerance Autosomal recessive	Fructose-1-phosphate accumulated. Inhibits glucogenolysis and gluconeogenesis	Hypoglycemia Jaundice Cirrhosis Vomitnig	↓intake of fructose and sucrose (glucose +fructose)
Galactokinase deficiency	Autosomal recessive	Galactitol accumulate if galactosa is present in diet	Galactose appear in bood/urine Infantile cataracts Failure to track obj./develop social smile
Galatose-1-phosphate uridyl transferase	Autosomal recessive	Accumulation of toxic substances (galactitol)	Failure to thrive Jaundice Hepatomegaly Infantile cataracts Mental retardation	Exclude galactose and lactose ( galactose  + glucose) from diet
Lactose deficiency	Age dependent or hereditary	Loss of brush border enzyme, also fallow to gastroenteritis	Bloating Cramps Osmotic diarrhea	Avoid dairy product or add lactose pills to diet