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Diagnosis of diseases of the broken digestion and absorption at children

Diseases of the broken digestion and absorption

Disease

Symptom complex

8 Alkaptonuria

Bluish coloring of cartilages of auricles
Emergence of dark brown coloring of urine at its standing on air
Arthropathies

9 Menkes's illness

Drowsiness
Periodically arising clonic spasms
Lag in mental development
The twisted, setaceous, easily breaking hair
Osteoporosis
Decrease in absorption of copper
Decrease in content of copper and ceruloplasmin in blood serum

10 Hartnap's illness

Pellagroidny changes of skin
Cerebellar ataxy
Hyperexcitability
Convulsive syndrome
Normal level of amino acids in blood
Aminoaciduria

11 Inborn lizinuriya

Diarrhea
Vomiting
Lag in intellectual and physical development
Normal or reduced level of amino acids in blood
Giperammoniyemiya
Decrease in urea of blood
Aminoaciduria

12 Inborn chloride diarrhea

Prematurity
Increase, stomach
The expressed diarrhea
Vomiting
Alkalosis
Hypochloraemia
Hypopotassemia
Hyponatremia
Concentration of Sa in Calais exceeds total concentration of Na and To

13 Disakharidaznaya insufficiency

Diarrhea
Meteorism
The progressing development of a hypotrophy
Acid reaction a calla (rn 5) with the increased quantity in it lactic acid
Flat sugar curve with intolerable disaccharides

14 The isolated insufficiency of trypsin and trypsinogen

The Kashitseobrazny or watery fetid chair arising against natural feeding soon after the birth
The progressing hypotrophy
Hypostases
Existence in excrements of a large amount of protein
Anemia with a moderate reticulocytosis, a neutropenia
Hypoproteinemia
Stopping of symptoms of pathological process after purpose of a diet with the hydrolyzed protein and pancreatic enzymes

15 Leucinosis

Emergence of clinical symptomatology in the first months of life
Rigidity of muscles
Opisthotonos
Clonic and tonic spasms
Urine with a smell of maple syrup
Increase of contents amine and ketonic acids in blood and urine

16 Mucoviscidosis, intestinal form

Bad increase of body weight
Polyexcrements with a fetid, brilliant stake of light gray color
Increase in the sizes of a stomach
Feeling of "salty taste" of the child's sweat
Steatorrhea
Increase of content of chlorides in sweat
Positive test of Shvakhman

17 Mucoviscidosis, pulmonary form

Pertussoid with department of a viscous mucopurulent phlegm from the first days of life
Development on the first year of life of pneumonia with a long and recurrent current, refractory to therapy
Fast emergence of bronchiectasias, diffusion pneumosclerosis and emphysema
Forming of chronic "pulmonary heart" on the first year of life
5 Increase of level of chlorides in sweat

18 Insufficiency of amylase

Frequent, volume kashitseobrazny or watery chair with an acid smell
Emergence of the specified chair in children is more senior than nine-months age, usually in connection with the use of the food containing starch
Quickly progressing hypotrophy
Total absence or sharp decrease of the activity of pancreatic amylase
Stopping of pathological process by a starch-free diet

19 Primary gipomagneviyemiya

The beginning of a disease in the first weeks of life
Hypomyotonia
Periodically arising convulsive syndrome
Gipomagneziyemiya
Hypocalcemia
Decrease in absorption of magnesium

20 Primary malabsorption of B12 vitamin

Lag in development
Obstipatsio
Fever
Megaloblastichesky anemia
Proteinuria
Methyl-malonic aciduria

21 Primary malabsorption of glucose and galactose

 

The diarrhea arising in the first 2 — 4 days after the birth (the watery chair reminding urine, with an acid smell, containing slime)
ex-icos
Fervescence
Abdominal distention

Disappearance of diarrhea after the termination of milk food and introduction to a fructose diet

22 Primary malabsorption of bile acids

Periodically arising diarrhea
Deficit of body weight
Steatorrhea
Decrease in concentration of bile acids in blood serum
Decrease in concentration of bile acids in urine

23 Primary malabsorption of tryptophane

Lag in development
Periodic fever
Coloring by urine of diapers in blue color
Hypercalcemia
Nefrokaltsnnoz

24 Primary malabsorption of folic acid

Cerebral degeneration
Epistaksis
Stomatorrhagias
Enterorragiya
Diarrhea
Dermatitis
Ulitis
Stomacace
Hepatomegalia
Macrocytic hyperchromic megaloblastny anemia
Leukopenia
Thrombocytopenia

25 Renal diabetes

Lack of the clinical symptomatology characteristic of other types of diabetes
Normal physical and mental development of the child
Existence no more than 1% of sugar in toshchakovy urine
Normal content of sugar in blood

26 Syndrome of Bessena-Korntsveyga

 

Lag in psychomotor development

Neurologic frustration
Pigmental retinitis
Hemeralopia
Steatorrhea
Anemia, acanthosis of erythrocytes
Abetalipoproteinemiya

27 Methionine sprue

White hair
Delay of intellectual development
Attacks of spasms
Attacks of forced ventilation
Hypostases
Urine with a beer smell

28 Shvakhman's syndrome - Daymonda (an inborn hypoplasia of a pancreas)

Chronic diarrhea
Polyexcrements
Emergence of the above-stated symptomatology after the termination of breastfeeding or at introduction of a feeding up
Anomaly of bones (dyschondroplasia of metaphyses)
Neutropenia
Hypersensitivity of a respiratory path and skin to coccal infections

29 A syndrome Sheldon - Rhea (the isolated deficit of a pancreatic lipase)

Diarrhea
Steatorrhea
Sharp decrease or total absence of activity of amylase of juice of a pancreas

30 Gee's disease

The beginning of a disease by the end of the first year of life, after introduction of a feeding up
The speeded-up, plentiful liquefied chair with a putrefactive smell
Pot-belly
In a koprogramma large amount of soaps and fatty acids
Disturbance of absorption of carbohydrates, fats, proteins

31 Cystinosis

Emergence of clinical signs of a disease at the end of the 1st year of life
Loss of appetite
Vomiting
Obstipatsio
Polydipsia
Pollakiuria
Periodic rises in temperature
Abdominal pains
The progressing lag in growth
Hypomyotonia
Hyper aminoaciduria
Tsistinovy crystalluria
Existence of tsistinovy stones in urinary tract

32 Exudative enteropathy (intestinal limfoektaziya)

Abdominal pains
Vomiting
Diarrhea
Asymmetrical hypostases, the exudate in a cavity is possible
Steatorrhea in most cases
Lymphopenia
Hypoproteinemia, disproteinemia, gipolipidemiya

33 Enteropatichesky acrodermatitis (Brandt's syndrome)

Emergence of symptoms of a disease after the breastfeeding termination
Changes of skin on extremities and around outside openings in the form of acute erythematic, vezikulo-violent dermatitis
Alopecia
Stomatitis
Conjunctivitis
Diarrhea
Decrease in absorption of zinc

39 Vitamin D-dependent rickets of the III degree

Neurovegetative imbalance
The expressed hypomyotonia
Bone deformations
Dispnoe
Cardiomegaly in the diameter
Dullness of cardiac sounds
Systolic noise
Hepatolienal syndrome
Obstipatsio
Lowering of arterial pressure
Hypochromia anemia
Metabolic acidosis
ECG disturbance of processes of repolarization
Radiological - the expressed osteoporosis

40 Hypervitaminosis D

 

Arises at the children receiving vitamin D
Neurotoxicosis of covers
Polydipsia
Nausea
Pale gray coloring of skin
Repeated vomiting
Stop and subsequent falling of body weight

Xeroderma and mucous
Tachycardia
Priglushennost of cordial tones
Increase of arterial pressure
Gepatosplenomegaliya
Hypercalcemia
Positive reaction of Sulkovich

41 Spasmophilia

Manifestation of symptomatology mainly in spring time
Arises at children in the rickets reconvalescence period
Increase of neuromuscular excitability in a look:
a) latent form (Trusso, Hvostek, Maslov, Lyust's positive symptoms, Erba)
b) explicit form (carpopedal spasm, laryngospasm,
convulsive syndrome)

According to Ostropolets S. S., V. N. Beet, Diagnostic syndromes of diseases of children's age.

 
"Diagnosis of chronic heart failure   Diagnosis of genetic diseases at children"