(E20.1) Pseudohypoparathyroidism

More details coming soon

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84 692 in individuals diagnosis pseudohypoparathyroidism confirmed
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6 428 deaths with diagnosis pseudohypoparathyroidism
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8% mortality rate associated with the disease pseudohypoparathyroidism

Diagnosis pseudohypoparathyroidism is diagnosed Women are 33.31% more likely than Men

28 242

Men receive the diagnosis pseudohypoparathyroidism

5 362 (19.0 %)

Died from this diagnosis.

100
95
90
85
80
75
70
65
60
55
50
45
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35
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5
0
56 450

Women receive the diagnosis pseudohypoparathyroidism

1 066 (1.9 %)

Died from this diagnosis.

Risk Group for the Disease pseudohypoparathyroidism - Men aged 0 and Women aged 60-64

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In Men diagnosis is most often set at age 0-79, 85-94
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Less common in men the disease occurs at Age 80-84, 95+Less common in women the disease occurs at Age 90-95+
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In Women diagnosis is most often set at age 0-89

Disease Features pseudohypoparathyroidism

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Non-contagious
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High individual risk, low public risk
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Pseudohypoparathyroidism - what does this mean

Pseudohypoparathyroidism is a rare genetic disorder caused by a mutation in a gene that helps regulate the body's response to parathyroid hormone (pth). this mutation causes the body to be unable to respond to pth, resulting in low levels of calcium in the blood and high levels of phosphorous. the symptoms of this disorder include stunted growth, muscle spasms, and abnormal facial features.

What happens during the disease - pseudohypoparathyroidism

Псевдогипопаратиреоз обусловлен генетической резистентностью скелета и почек к действию паратиреоидного гормона. Это связано с дефектом специфических рецепторов плазматических мембран клеток-мишеней и недостаточностью ферментов аденилатциклазы, протеинкиназы, циклического 3, 5- аденозинмонофосфата (АМФ) в дистальных канальцах нефрона, что сопровождается реабсорбцией фосфора. Снижение выделения фосфора с мочой приводит к гиперфосфатемии и вторичной гипокальциемии.

 

Поскольку при псевдогипопаратиреозе паращитовидные железы остаются интактными, гипокальциемия может вызывать стимуляцию секреции паратгормона и развитие вторичного гиперпаратиреоза. При псевдогипопаратиреозе обычно имеет место компенсаторная гиперплазия паращитовидных желез (развитие аденом не типично), изменения со стороны костной ткани (остеопороз, кисты), отложение кальцинатов в скелетных мышцах, подкожной клетчатке, а также в почках, стенках артерий, миокарде, конъюнктиве и роговицы глаза. Псевдогипопаратиреоз часто сочетается с артериальной гипертензией, сахарным диабетом, артериитом, полиартритом.

Clinical Pattern

More details coming soon

How does a doctor diagnose

  • Physical examination
  • Blood tests to measure calcium, phosphorus, and PTH levels
  • Urine tests to measure calcium and phosphorus levels
  • X-rays to evaluate bone density
  • Genetic testing
  • CT scan or MRI to evaluate the structure of the brain

Treatment and Medical Assistance

Main goal of the treatment: To restore normal calcium levels and reduce the symptoms of Pseudohypoparathyroidism
  • Administering vitamin D supplements
  • Administering calcium supplements
  • Monitoring calcium levels in the blood
  • Prescribing medications to increase calcium absorption
  • Regular physical activity
  • Eating a balanced diet
  • Avoiding caffeine and alcohol
  • Managing stress levels
  • Monitoring kidney function
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10 Days of Hospitalization Required
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Average Time for Outpatient Care Not Established

Pseudohypoparathyroidism - Prevention

Pseudohypoparathyroidism can be prevented by maintaining a healthy diet and lifestyle, avoiding excessive calcium intake, getting adequate amounts of vitamin d and regular exercise. additionally, the use of calcium and vitamin d supplements, as prescribed by a physician, may also be beneficial in preventing this condition.

Main symptoms of the disease pseudohypoparathyroidism

Vomit

Vomiting is the forceful expulsion of stomach contents through the mouth. It can be accompanied by nausea, abdominal pain, and sweating. Vomiting can be caused by a variety of conditions, such as food poisoning, motion sickness, viral infections, and migraine headaches. Symptoms can range from mild ...

Age: any ageAccociated with 149 diseases

Obesity

(Overweight, Corpulence, Corpulency, Heaviness, Plumpness, Ponderosity, Portliness, Avoirdupois, Fleshy, Gain, Rotundity)

Obesity is a condition in which excess body fat accumulates to the point of negative health effects. It is usually defined as having a body mass index (BMI) of 30 or higher. It can develop gradually over time, due to an imbalance between energy intake (eating too much) and energy expenditure (not be...

Age: 1 to 100Accociated with 15 diseases

Dementia

Dementia is a symptom of a wide range of conditions that affect the brain. It is characterised by a decline in cognitive function, including memory, language, problem-solving, and judgement. It can also affect behaviour, emotions, and the ability to perform everyday activities. Symptoms typically de...

Age: 1 to 100Accociated with 19 diseases

Blood in the urine

(Hematuria, Urine with blood, Blood in urine, Discolored urine, Pink urine, Red urine, Maroon urine, Brown urine)

Blood in the urine, also known as hematuria, is a symptom that occurs when red blood cells are present in the urine. It can range from a few drops to a large amount of blood and may be accompanied by pain, a burning sensation, or difficulty urinating. The color of the urine may be pink, red, or brow...

Age: any ageAccociated with 41 diseases

Spasm

(Twitching, Contraction, Cramp, Jerking, Convulsion, Muscle spasm, Tic, Clonus, Myoclonus, Spasmodic)

A spasm is a sudden, involuntary muscle contraction that can cause pain and discomfort. It can occur in any muscle group and can be caused by a variety of different conditions. Symptoms of a spasm can include tightness, pain, and difficulty moving the affected muscle. Spasms can develop suddenly or ...

Age: 1 to 100Accociated with 56 diseases

Short stature

(Small size, Decreased height, Abbreviated stature, Diminished height, Reduced size, Compact height, Lessened stature, Decreased size, Mild stature, Shorter size)

Short stature is a condition where a person's height is significantly below average for their age and sex. It is characterized by slow growth, delayed puberty, and a decrease in overall body size. It can be caused by a variety of genetic and environmental factors, and can manifest differently in eac...

Age: At null Years OldAccociated with 1 diseases

Moon face

(Round face, Full face, Puffy face, Chipmunk cheeks, Bloated face, Baby face, Moon-shaped face)

Moon face is a symptom characterized by roundness of the face, caused by an accumulation of fat in the cheeks. It usually develops gradually over time, and is often associated with the use of certain medications, such as corticosteroids. It can also be caused by certain medical conditions, such as C...

Age: At null Years OldAccociated with 2 diseases

Hypoplasia of tooth enamel

(Enamel hypoplasia, Enamel hypocalcification, Enamel hypocalcification syndrome, Enamel defects, Enamel hypocalcification disorder, Enamel hypoplasia syndrome, Enamel hypoplasia disorder, Enamel hypocalcification disease, Enamel hypoplasia disease, En...)

Hypoplasia of tooth enamel is a condition where the enamel layer of teeth is underdeveloped. It is characterized by a thinning or absence of the outer enamel layer, which can lead to discoloration, chipping, and other dental issues. Hypoplasia typically develops during the early stages of tooth deve...

Age: At null Years OldAccociated with 2 diseases

Urolithiasis disease

(Kidney stones, Renal calculi, Nephrolithiasis, Urinary calculi, Urolith, Urolithiasis, Renal stones, Urolithic disease, Urate stones, Calculous disease)

Urolithiasis is a condition in which small stones form in the urinary tract, including the kidneys, bladder, and ureters. The stones can be composed of minerals, such as calcium oxalate or uric acid, or of organic material, such as protein. Symptoms of urolithiasis include pain in the lower abdomen,...

Age: At null Years OldAccociated with 2 diseases