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Kwashiorkor

Disease Details

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Description: Kwashiorkor is a form of severe malnutrition characterized by protein deficiency, leading to symptoms like edema, an enlarged liver, skin lesions, and a distended abdomen.
Type: Kwashiorkor is not a genetic disease; it is a form of severe malnutrition caused by a deficiency in dietary protein. It typically occurs in areas where there is famine, limited food supply, or low levels of education regarding proper nutrition.
Signs And Symptoms: The defining sign of kwashiorkor in children is bilateral edema in the feet. Edema may also involve the hands, trunk, and face. Kwashiorkor is characterized by a fatty liver. This fatty liver of undernutrition phenotype is often accompanied by evidence of inflammation and fibrosis. Whereas a fatty liver of undernutrition is a consistent feature of kwashiorkor, it is only encountered sometimes in children with marasmus. In addition to this characteristic hepatic steatosis, kwashiorkor is marked by a parallel pattern of multi-organ dysfunction. Organs often affected in children with kwashiorkor include the kidneys, pancreas, heart, and nervous system. Other findings that may be encountered on physical exam include a distended abdomen, hair thinning, loss of teeth, skin or hair depigmentation, and dermatitis. Children with kwashiorkor often develop irritability and anorexia. Generally, kwashiorkor is treated by introducing a high quality source of protein to the diet. Ready to use therapeutic food (RUTF) as well as F-100 and F-75 milk powders, which both include skim milk powder, are recommended for the treatment of kwashiorkor. These products are designed for use in low resource settings. The limited number of kwashiorkor cases that occur in high resource settings, where there is good access to advanced therapeutic tools, are typically treated with partially hydrolyzed or elemental enteral formulas, with parenteral nutrition provided in extreme cases.
Prognosis: Kwashiorkor is associated with a high risk of mortality and long-term complications. Treatment under the guidelines of the World Health Organization has proven to reduce this mortality risk and affected children tend to recover faster than children with other severe malnutrition diseases. However, physical and intellectual capabilities are not fully restored. Growth stunting and chronic disruption of microbiota are commonly observed after recovery.A high risk of death is identified by a brachial perimeter < 11 cm or by a weight-for-age threshold < −3 z-scores below the median of the WHO child growth standards. In practice, malnourished children with edema are suffering from potentially life-threatening severe malnutrition.
Onset: Kwashiorkor can have a rapid onset, often occurring in just a matter of weeks when a child transitions from a breastfeeding diet to one with insufficient protein intake. This condition frequently affects children between the ages of 1 and 5, especially in regions with limited access to adequate nutrition. Symptoms can include edema, an enlarged liver, and apathy.
Prevalence: The prevalence of kwashiorkor varies widely based on geographical location and socioeconomic factors. It is most commonly found in regions experiencing famine, chronic food shortages, or limited access to balanced nutrition, particularly in sub-Saharan Africa, Southeast Asia, and Central America. Precise global prevalence rates are not readily available due to varying reporting standards and healthcare access, but it is a significant public health issue in areas with high levels of poverty and malnutrition.
Epidemiology: Kwashiorkor is rare in high income countries. It is mostly observed in low-income and middle income nations and regions such as Southeast Asia, Central America, Congo, Ethiopia, Puerto Rico, Jamaica, South Africa, and Uganda, where poverty is prominent. Occurrences of severe malnutrition also tend to trend higher under conditions of food insecurity, higher prevalence of infectious diseases, lack of access to appropriate care, and poor living situations with inadequate sanitation. Communities experiencing famine are affected the most especially during the rainy season. Prevalence varies, but it affects children of either sex commonly under five years old. "Globally, kwashiorkor indirected accounted for 53% of deaths among children under five between 2000 and 2003 when associated with other common childhood diseases like acute respiratory infections, malaria, measles, HIV/AIDS and other causes of perinatal deaths."When compared to marasmus in developing countries, kwashiorkor typically has a lower prevalence, "0.2%-1.6% for kwashiorkor and 1.2%-6.8% for marasmus." Factors such as "diet, geographical locations, climate and aflatoxin exposure" have been invoked as potential causes for observed differences in the prevalence for kwashiorkor and marasmus.In general, in areas where Severe Acute Malnutrition (SAM) is prevalent, marasmus is more often the dominant SAM condition. However, in certain areas kwashiorkor may be more common than marasmus.
Intractability: Kwashiorkor is not necessarily intractable; it is a severe form of malnutrition caused by protein deficiency, often seen in areas with limited food supply. It can be treated effectively with proper nutritional intervention, including adequate protein and calorie intake. Early diagnosis and treatment are crucial for recovery and can prevent complications. However, long-term outcomes depend on various factors, including the timeliness and adequacy of the intervention and the overall health of the affected individual.
Disease Severity: For kwashiorkor:
- **Disease Severity**: Severe
- **Nan**: Not applicable in this context
Healthcare Professionals: Disease Ontology ID - DOID:13579
Pathophysiology: Kwashiorkor is primarily caused by severe protein deficiency, often occurring in children who have an adequate calorie intake but insufficient protein. The pathophysiology involves several key factors:

1. **Protein Deficiency**: Inadequate protein intake leads to a deficit in essential amino acids, impairing protein synthesis.
2. **Edema**: Low plasma albumin levels, resulting from insufficient protein, cause a decrease in oncotic pressure. This leads to fluid leakage into interstitial spaces, manifesting as edema, particularly in the abdomen, legs, and feet.
3. **Fatty Liver**: Impaired synthesis of lipoproteins due to protein deficiency results in fat accumulation in the liver.
4. **Immune Dysfunction**: Protein deficiency weakens the immune response, increasing susceptibility to infections.
5. **Skin and Hair Changes**: Altered protein and micronutrient levels cause dermatitis and hair depigmentation.
6. **Oxidative Stress**: Deficiency in antioxidants, often seen in kwashiorkor, exacerbates cellular injury and organ dysfunction.

These factors collectively contribute to the clinical presentation of kwashiorkor, characterized by edema, dermatosis, hepatomegaly, and growth retardation.
Carrier Status: Kwashiorkor is a severe form of malnutrition caused by a deficiency in dietary protein. It primarily affects young children in developing countries. Since it is not a genetic condition, there is no carrier status associated with kwashiorkor.
Mechanism: Kwashiorkor is a severe form of malnutrition caused primarily by protein deficiency. The mechanism involves an inadequate dietary intake of protein despite sufficient caloric intake, leading to various physiological disturbances.

### Mechanism:
1. **Protein Deficiency**: Insufficient protein intake disrupts the balance of essential amino acids necessary for the synthesis of body proteins, including those for muscle growth and repair.
2. **Hypoalbuminemia**: Low levels of albumin in the blood due to decreased synthesis in the liver result in reduced oncotic pressure, leading to fluid leakage into the interstitial spaces and causing edema.
3. **Fatty Liver**: Protein deficiency impairs the synthesis of lipoproteins needed for fat transport, causing fat to accumulate in the liver.
4. **Compromised Immune Function**: Reduced protein intake weakens the immune system, making individuals more vulnerable to infections.

### Molecular Mechanisms:
1. **Gene Expression**: Protein deficiency alters the expression of genes involved in protein synthesis and degradation pathways. This results in decreased synthesis of albumin and other critical proteins.
2. **Cytokine Imbalance**: Malnutrition leads to an imbalance in cytokine production, increasing inflammatory cytokines like TNF-alpha, which contribute to muscle wasting and impaired growth.
3. **Oxidative Stress**: Protein-malnourished cells have reduced antioxidant defenses, leading to increased oxidative stress and cellular damage.
4. **Hormonal Changes**: Altered levels of hormones like insulin and cortisol due to protein deficiency impact metabolism and physiological stress responses.

These molecular disruptions collectively contribute to the clinical manifestations of kwashiorkor, such as edema, poor growth, muscle wasting, and impaired immune function.
Treatment: WHO guidelines outline 10 general principles for the inpatient management of severely malnourished children.
Treat/prevent hypoglycemia
Treat/prevent hypothermia
Treat/prevent dehydration
Correct electrolyte imbalance
Treat/prevent infection
Correct micronutrient deficiencies
Start cautious feeding
Achieve catch-up growth
Provide sensory stimulation and emotional support
Prepare for follow-up after recoveryBoth clinical subtypes of severe acute malnutrition (kwashiorkor and marasmus) are treated similarly. Upon initial treatment, children with kwashiorkor may experience weight loss as their edema resolves. Therefore, after concerns of refeeding syndrome have passed, children may require 120-140% of their estimated caloric needs in order to achieve catch-up growth.The cause, type, and severity of malnutrition determines what type of treatment would be most appropriate. For primary acute malnutrition, children with no complications are treated at home and are encouraged to either continue breastfeeding (for infants) or start using ready-to-use therapeutic foods (for children). For secondary acute malnutrition, the underlying cause needs to be identified to appropriately treat children. Only after the primary disease is determined can an appropriate dietary plan be made, as fluid, vitamins, and macronutrients may need to be considered to not exacerbate the cause of the malnutrition.Ready-to-use therapeutic foods (RUTFs) and F-75 and F-100 milks were created to provide appropriate nutrition and caloric intake to those experiencing malnutrition. F-75 milk would be ideal when trying to reintroduce food into a malnourished person, and F-100 milk would be used to aid in weight gain. While RUTFs and F-100 milk were made to have the same nutritional value, RUTFs are beneficial as they are dehydrated and do not require much preparation.
Compassionate Use Treatment: Kwashiorkor is a severe form of malnutrition caused primarily by inadequate protein intake. The primary treatment involves nutritional rehabilitation that focuses on providing adequate calories and protein. Given the urgency and severity of the condition, compassionate use treatments or off-label/experimental treatments are generally not a primary approach. However, in cases of complications or severe manifestations, certain supportive therapies might be considered:

1. **Micronutrient supplementation:** Zinc, vitamin A, and other essential vitamins and minerals are often included in treatment plans to address specific deficiencies.

2. **Antibiotics:** Since malnourished children are at high risk of infections, antibiotics may be used to treat or prevent bacterial infections.

3. **Probiotics:** Some research has suggested that probiotics may help restore gut health in severely malnourished children, although this is more experimental.

4. **Therapeutic foods:** Ready-to-Use Therapeutic Foods (RUTF) like Plumpy'Nut are specially formulated with a balance of nutrients and may be part of treatment protocols.

Any experimental or off-label treatments should be administered under close medical supervision and usually within the framework of a clinical trial to ensure safety and efficacy.
Lifestyle Recommendations: Lifestyle recommendations for managing and preventing kwashiorkor focus on ensuring proper nutrition:

1. **Balanced Diet:** Consume a diet rich in proteins, including sources like meat, fish, eggs, dairy, legumes, and nuts.
2. **Caloric Intake:** Ensure adequate caloric intake to meet energy requirements, particularly for growing children.
3. **Diverse Foods:** Incorporate a variety of foods from all food groups to avoid nutrient deficiencies.
4. **Frequent Meals:** Provide small, frequent meals to enhance nutrient absorption.
5. **Micronutrients:** Ensure adequate intake of essential micronutrients like vitamins and minerals, which are crucial for overall health.
6. **Education:** Educate caregivers on the importance of proper nutrition and how to prepare nutrient-rich meals.
7. **Breastfeeding:** Promote exclusive breastfeeding for infants up to six months, followed by continued breastfeeding along with appropriate complementary foods.
8. **Monitoring:** Regularly monitor growth and development in children to detect and address early signs of malnutrition.

Prompt medical attention and adherence to these lifestyle recommendations can effectively prevent kwashiorkor and support recovery.
Medication: Kwashiorkor is primarily managed through nutritional rehabilitation rather than medication. The key aspects include gradually reintroducing essential nutrients, particularly proteins and calories. Treatment involves a diet rich in proteins and calories, along with vitamins and minerals to correct deficiencies. Therapeutic foods, often ready-to-use therapeutic food (RUTF), are commonly used to aid recovery. In severe cases, medical supervision is necessary to manage complications such as infections or electrolyte imbalances.
Repurposable Drugs: Kwashiorkor is primarily a nutritional disorder caused by severe protein deficiency. There are no well-established repurposable drugs for treating kwashiorkor specifically. The mainstay of treatment involves nutritional rehabilitation, which includes the careful reintroduction of proteins and calories.

If you have any more specific details about the aspect of "nan" you are inquiring about, please provide additional context.
Metabolites: Kwashiorkor is a form of severe malnutrition characterized primarily by protein deficiency. Key metabolites affected in kwashiorkor include:

1. **Albumin**: Levels are significantly reduced.
2. **Amino acids**: There is a marked deficiency in essential amino acids.
3. **Transferrin**: Often decreased.
4. **Creatinine**: May be low due to muscle wasting.
5. **Urea**: Low, indicating reduced protein intake and metabolism.
6. **Blood glucose**: Can vary; often hypoglycemia in severe cases.

Nanotechnology applications (if referenced by "nan.") in diagnosing and treating kwashiorkor are emerging, focusing on improved nutritional delivery systems and precise diagnostic tools.
Nutraceuticals: Nutraceuticals are products derived from food sources with extra health benefits in addition to their basic nutritional value. For kwashiorkor, a condition caused by severe protein deficiency, nutraceuticals that may help include protein supplements, vitamins, and minerals, especially those rich in essential amino acids, vitamins A, D, E, and zinc. These can aid in restoring nutritional balance and supporting overall health. However, the primary treatment for kwashiorkor involves a balanced diet rich in protein and calories to address the underlying deficiency.
Peptides: Kwashiorkor is a form of severe malnutrition caused by a deficiency in dietary protein. Peptides in the context of kwashiorkor could refer to the breakdown products of proteins, as they are short chains of amino acids. Adequate intake of proteins and peptides is crucial for preventing and treating this condition. Nanotechnology (nan) is not directly related to kwashiorkor, but advancements in this field may potentially improve nutritional delivery systems or diagnostics in the future.