Chronic renal failure history and symptoms
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Aarti Narayan, M.B.B.S [2]
Overview
There are no pathognomonic symptoms associated with chronic renal failure. Malaise, nausea, unintentional weight loss, pruritus, lower extremity edema, and sleep disorders are common non-specific symptoms of chronic renal failure.
Personal History and Symptoms
Dermatologic
- Pruritus
Neuromuscular
- Anorexia
- Fatigue
- Nausea (especially in the morning)
- Sleep disturbances and sleep apnea
- Hiccups
- Dry mouth
- Headache
- Reduced sense of smell and taste
- Lower extremity cramps and edema
- Restless legs
- Extremity numbness, paresthesias, and weakness (sensorimotor peripheral neuropathy)
- Seizures
- Decreased mental acquity
- Coma
Cardiothoracic
- Chest pain (uremic pericarditis)
Abdominal
- Abdominal distention (serositis)
- Abdominal discomfort
Hematologic
- Skin pallor
- Bleeding tendency
Metabolic
- Unintentional weight loss
- Amenorrhea
- Sexual dysfunction
- Loss of libido
- Impotence
- Failure to thrive (in children)
Family History
- Renal diseases
- History of dialysis or renal transplantation
- History of hearing loss (Alport’s syndrome)
- History of inborn errors of metabolism (Fabry disease or cystinuria)
Medications History
- History of excessive NSAID use
- Chronic exposure to nephrotoxic agents (e.g. heavy metals)
Clinical and Diagnostic Evaluation from genetical aspect
- the first step in genetic diagnosis is
- obtaining gf a comprehensive phenotyping.
- detailed family history
- three generation family pedigree.
- The diagnostic yield of genetic testing in CKD is variable and depends on the disease phenotype, associated coexisting conditions, ethnicity, consanguinity, family history, and age at onset.( table 1)
- Analyses of single kidney disease genes are currently being supplanted by large gene panels, exome sequencing, and whole-genome sequencing.
References
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