الفهرس 
Chronic Kidney DiseaseOnly 14 pages are availabe for public view
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Abstract
CKD is considered with 2 criteria, one is abnormal renal function or morphology especially protinuria. Second is glomerular filtration rate less than 60 ml/ min/ 1.73m2 for > 3 months calculated by equation using serum creatinine. Still CKD is important for evaluation, prevention, and treatment, in terms of improving quality of life of peoples. Hyperfiltration injury and/ or the toxic metabolite- protein traffic across the capillary wall are an important pathway of glomerular destruction independent of the underlying cause of renal injury.
Fluid and electrolytes disorders: acid- base imbalance, calcium, phosphorus metabolism, sodium, potassium, chloride, and uric acid abnormalities are contributing factors in the pathogenesis as well as drug response and management outcome.
Metabolic errors concerning: inherited errors (cystinosis, hyperoxaluria) (polycystic kidney disease), errors of carbohydrates, lipid, protein, mineral metabolism, and metabolic syndrome (hypertension, hyperinsulinemia, and glucose intolerance) represent a set of complex physical and chemical processes occuring in every cell of the body and alter the homeostatic mechanisms as well as the prognosis of the disease.
Management, approach of diagnosis, prevention, and treatment including medical and non- medical measures with special influence on nutritional role were also presented.
Diagnosis is important not only for treatment and prognostication but also for genetic counseling and antenatal diagnosis in subsequent pregnancies (recurrence risk). However, acquired causes of metabolic disorders should be carefully assesed and managed. Severe illness in the newborn, regardless of the underlying cause, tends to manifest with non- specific findings, such as poor feeding, drowsiness, lethargy, hypotonia and failure to thrive. IEM should be considered in the diffrential diagnosis of any sick neonate along with common aquired causes such as sepsis, hypoxic- ischemic encephalopathy, duct- dependant cardiac lesions, congenital adrenal hyperplasia, and congenital infections.
Patterns of presentation include: encephalopathy with or without metabolic acidosis, acute liver failure (hepatic failure, neonatal cholestasis, and hypoglycemia), dysmorphic features (seen in peroxisomal disorders and lysosomal storage disease, may present with non- immune hydrops fetalis), and cardiac disease (cardiomyopathy is apredominent feature in some IEM including fatty acid oxidation defects, glycogen storage disease type II and mitochondrial electron transport chain defects.
Metabolic investigations include:
First line investigations include:
1- Complete blood count.
2- Arterial blood gases and electrolytes.
3- Blood glucose.
4- Plasma ammonia.
5- Arterial blood lactate.
6- Liver function tests.
7- Urine ketones.
8- Urine reducing substances.
9- Serum uric acid.
Second line investigations (confirmatory tests that performed in a targeted manner):
1- Gas chromatography mass spectrometry of urine.
2- Plasma amino acid and acyl carnitine profile: by tandem mass spectrometry and high performance liquid chromatography (in blood and urine).
3- Urinary orotic acid- in cases with hyperammonemia.
4- Plasma very long chain fatty acid levels: elevated in peroxisomal disorders. 5- Enzyme assay: this is required for definitive diagnosis.
6- Neuroimaging and magnetic resonance spestroscopy.
7- Mutation analysis when available.