什么是Hartnup疾病？

Hartnup疾病也称为Hartnup说order. It’s a hereditary metabolic disorder. It makes it difficult for your body to absorb certain amino acids from your intestine and reabsorb them from your kidneys. Amino acids are essential building blocks for creating protein in your body.

Hartnup disease was named for the Hartnup family of England, who were featured in a 1956 study of the condition. Four out of eight family members were found to have excessive amounts of amino acids in their urine. They also had skin rash and a lack of coordination of their voluntary muscle movements, known as ataxia. These are the signs and symptoms characteristic of Hartnup disease, which typically affects the skin and brain.

这National Organization for Rare Disorders据报道，据估计，在美国，哈特纳普疾病会影响约30,000人。症状通常在婴儿期或生命的头几年开始出现。症状持续约两个星期，当时有“攻击”。这些攻击的频率随着年龄的增长而降低。

如果您获得所需量的维生素B复合物，您的大脑和皮肤保持健康，并保持正常功能。如果您患有hartnup疾病，则无法正确吸收某些氨基酸。这阻碍了您人体产生蛋白质和使维生素B复合物的能力。它可以触发特定的心理和身体症状，包括：

  • 皮疹
  • anxiety
  • rapid mood swings
  • 妄想
  • hallucinations
  • 意图震颤
  • 语音困难
  • unsteady wide-based gait, in which you walk with your legs farther apart than normal
  • 肌肉张力异常，肌肉变得更紧或失去语气
  • 身材矮小
  • 对光的敏感性

A skin rash called “pellagra” is a common symptom. It usually results from exposure to sunlight. It’s an intermittent red and scaly rash that typically appears over your face, neck, hands, and legs. It’s initially red, but over time it can progress to an eczematous-like rash. With prolonged sun exposure, the changes in your skin pigmentation can become permanent.

阳光，营养不良，磺酰胺药物或情绪或身体压力可能会引发症状。

尽管症状通常在婴儿期或幼儿期开始出现，但也可能在成年初期出现。随着年龄的增长，症状的急性发作通常会变得不那么频繁。

Hartnup disease is caused by a mutation of the gene that controls your body’s amino acid absorption and reabsorption. It’s an autosomal recessive trait. That means that people who are born with the condition have inherited a mutated gene from both parents. Scientists aren’t sure why the mutation occurs.

在大多数人中，您的身体会吸收特定的氨基酸进入您的肠道，然后在肾脏中重新吸收它们。如果您患有hartnup疾病，则无法从小肠中正确吸收某些氨基酸。您也无法从肾脏中吸收它们。结果，过量的氨基酸通过排尿清除了您的身体。这使您的身体含量不足。

Among other amino acids, Hartnup disease affects your ability to absorb tryptophan. This is an important building block for proteins and vitamins. Without enough tryptophan, your body can’t produce enough niacin. A niacin deficiency can cause you to develop a sun-sensitive rash. It can also lead to dementia.

如果您的医生怀疑您患有Hartnup疾病，则可能会订购尿液分析测试。他们将收集您的尿液样品，以发送到实验室，以测量通过尿液排出的氨基酸量。如果您的尿液中有高水平的“中性”氨基酸，则可能是Hartnup疾病的迹象。

仅此测试就不足以诊断Hartnup疾病。您的医生还将审查您的个人病史。他们会询问您有关您的症状，您的症状的频率以及何时开始。他们还可以订购血液检查以检查您的维生素B复合物水平，包括烟酸。

If you’re diagnosed with Hartnup disease, your doctor will likely advise you to change your diet, avoid sunlight, and avoid sulfonamide drugs.

饮食变化

由于患有hartnup疾病的人无法产生足够的烟酸，因此食用含有烟酸的食物可以显着减轻您的症状。烟酸的良好来源包括：

  • 红肉
  • poultry
  • fish
  • 花生酱
  • fortified grains
  • whole grains
  • potatoes

红肉，家禽，鱼和花生也是蛋白质的极好来源。选择红肉和无皮禽的瘦肉。肉类和家禽的脂肪和皮肤是饱和脂肪的丰富来源。吃太多饱和脂肪会增加您患高胆固醇的风险。

补品

Your doctor may also suggest taking vitamin B complex or niacin supplements, such as nicatonic acid. Your recommended supplement dosage will depend on the severity of your niacin deficiency.

Sun avoidance

您的医生可能还建议您避免直接暴露于阳光下。例如，他们可能会鼓励您穿防晒霜和防护服。

In most cases, people with Hartnup disease can live healthy lives. Complications of the condition are rare. But it’s possible to undergo changes in skin pigmentation, have trouble coordinating your physical movements, or develop psychiatric problems as a result of this condition. In rare cases, you may develop diseases of your nervous system.

Nervous system conditions can be life threatening, but in most cases your doctor can treat them effectively. Ask your doctor for strategies to manage your condition and lower your risk of complications.