Diseases

Neonatal Systemic lupus erythematosus

Neonatal lupus erythematosus (NLE) is a rare disorder caused by the transplacental passage of maternal autoantibodies. Only 1% of infants with positive maternal autoantibodies develop NLE. The most common clinical manifestations are cardiac, dermatologic, and hepatic. Some infants may also have hematologic abnormalities. Most mothers at the time of childbirth are healthy and without signs or symptoms of lupus erythematosus or other collagen vascular disorders. Mothers of children with NLE may later develop an atypical rather than classic picture of systemic lupus erythematosus (SLE) or other connective tissue disorder. If a mother with anti-Ro autoantibodies has 1 child with NLE, the incidence in subsequent pregnancies is approximately 25%. The incidence of congenital heart block is 15-30% in infants with NLE.

Nephrocalcinosis

Nephrocalcinosis refers to increased calcium content of the kidneys. This term usually applies to a generalized increase in renal calcium content, as opposed to a localized increase that is observed in calcified renal infarct or caseating renal tuberculosis. Nephrocalcinosis can be divided into 3 categories based on the different presentations and clinical effects, as follows: * Chemical nephrocalcinosis: This implies an increased concentration of calcium within renal cells, chiefly the tubular epithelium, causing an adverse effect on renal structure and function. * Microscopic nephrocalcinosis: This refers to calcium precipitates in crystalline form as oxalate and/or phosphate, but it is only evident microscopically. * Macroscopic nephrocalcinosis: Large areas of calcification are observed on visual or radiologic examination without magnification. A certain degree of overlap exists among these despite the differing classification.

Nephrogenic diabetes insipidus

In nephrogenic diabetes insipidus, the kidneys produce a large volume of dilute urine because they fail to respond to antidiuretic hormone and are unable to concentrate urine. * Often this disorder is hereditary, but it can be caused by drugs or disorders that affect the kidneys. * Symptoms include excessive thirst and excretion of large amounts of urine. * Diagnosis is based on tests of blood and urine. * Drinking large amounts of water, restricting salt in the diet, and sometimes taking drugs reduce urine volume. Both diabetes insipidus and the better-known type of diabetes, diabetes mellitus, result in the excretion of large volumes of urine. Otherwise, the two types of diabetes are very different. Two types of diabetes insipidus exist. In nephrogenic diabetes insipidus, the kidneys do not respond to antidiuretic hormone (vasopressin), so they continue to excrete a large amount of dilute urine. In the other, more common, type (central diabetes insipidus), the pituitary gland fails to secrete antidiuretic hormone

Nephropathic cystinosis

Cystinosis is an inherited condition in which the body accumulates the amino acid cystine within the cells. Excess cystine forms crystals that can build up and damage cells. These crystals can negatively affect many systems in the body, especially the kidneys and eyes. There are three distinct types of cystinosis: nephropathic cystinosis, intermediate cystinosis, and non-nephropathic or ocular cystinosis. All three types of cystinosis are caused by mutations in the CTNS gene and inherited in an autosomal recessive pattern.

Nephropathy familial with hyperuricemia

Nephropathy familial with hyperuricemia: A rare inherited kidney disease characterized by early onset of gout, kidney failure and high blood uric acid level and low urine uric acid level. The uric acid level abnormalities are due to the kidneys reduced ability to excrete it into the urine

Nephrosclerosis

Benign hypertensive arteriolar nephrosclerosis is progressive renal impairment caused by chronic, poorly controlled hypertension. Symptoms and signs of chronic kidney disease may develop (eg, anorexia, nausea, vomiting, pruritus, somnolence or confusion), as may signs of end-organ damage secondary to hypertension. Diagnosis is primarily clinical, supported by routine laboratory test findings. Treatment is strict BP control and support of renal function. Benign hypertensive arteriolar nephrosclerosis results when chronic hypertension damages small blood vessels, glomeruli, renal tubules, and interstitial tissues. As a result, progressive chronic kidney disease develops. Benign nephrosclerosis progresses to end-stage renal disease in only a small percentage of patients. However, because chronic hypertension and benign nephrosclerosis are common, benign nephrosclerosis is one of the most common diagnoses in patients with end-stage renal disease. It is termed benign to distinguish it from malignant arteriolar nephrosclerosis, which is a synonym for hypertensive emergency (see Arterial Hypertension: Hypertensive Emergencies). Risk factors include older age, poorly controlled moderate to severe hypertension, and other renal disorders (eg, diabetic nephropathy). Blacks are at increased risk; it is unclear if the risk is increased because poorly treated hypertension is more common among blacks or because blacks are more genetically susceptible to hypertension-induced renal damage.

Nephrotic syndrome ocular anomalies

Nephrotic syndrome ocular anomalies: A rare disorder characterized by the association of particular eye anomalies with kidney disease. Kidney failure occurs before or soon after birth with death occurring within months of birth.

Nephrotic syndrome- idiopathic- steroid-resistant

Nephrotic syndrome is a condition where the kidneys leak protein from the blood into the urine. Corticosteroids are used in the first instance to achieve remission. Some children do not respond to this treatment and other agents such as cyclophosphamide, chlorambucil, cyclosporin or ACE inhibitors may be used. This review found that when cyclosporin was compared to placebo or no treatment there was a significant increase in the number of children who achieved complete remission. There was no improvement with other immunosuppressive agents. However the number of studies were small

Nerve sheath neoplasm

Nerve sheath neoplasm: Tumors that develop from the protective sheath surrounding nerves. There are two types of nerve sheath tumors: schwannomas and neurofibromas. They most often occur around the spinal cord. Symptoms are determined by the size and exact location of the tumor.

Nesidioblastosis of pancreas

Nesidioblastosis of pancreas: A rare genetic disorder where abnormal islets of Langerhans cells in the pancreas produce excess insulin which causes very low blood sugar levels. Untreated low blood sugar can cause permanent brain damage.

Netherton syndrome

Netherton syndrome is a rare inherited disorder that presents with the three following characteristics:

  • Ichthyosiform erythroderma – inflamed, red, scaly skin
  • Trichorrhexis invaginata ("bamboo hair") – short, brittle, lustreless hair
  • Atopic diathesis – predisposition to allergy problems (e.g., to nuts, hay fever, and asthma)

Individuals with Netherton syndrome may show some or all of these features with varying degrees of severity of their symptoms.

Neu Laxova syndrome

A rare fatal genetic disorder characterized by microcephaly and multiple congenital abnormalities. Death occurs during the fetal or newborn stage

Neuhauser Daly Magnelli syndrome

Neuhauser-Daly-Magnelli syndrome: A very rare syndrome characterized by tremors, duodenal ulcers and involuntary eye movements (nystagmus)

Neuhauser Eichner Opitz syndrome

Neuhauser-Eichner-Opitz syndrome is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that Neuhauser-Eichner-Opitz syndrome, or a subtype of Neuhauser-Eichner-Opitz syndrome, affects less than 200,000 people in the US population. Source - National Institutes of Health (NIH)

Neural tube defect- folate-sensitive

Neural tube defect, folate-sensitive: Neural tube defects caused by abnormal folate or homocysteine metabolism. Neural tube defects are brain or spine defects such as an opening in the spinal cord through which the spinal cord protrudes

Neural tube defects X-linked

A very rare disorder where neural tube defects (brain and spine defects) such as spina bifida are inherited in a X-linked manner (only males are affected whereas females are carriers).

Neuraminidase deficiency with beta-galactosidase deficiency

Neuraminidase deficiency with beta-galactosidase deficiency also called Galactosialidosis, Goldberg syndrome,Cathepsin a deficiency. This means that Neuraminidase deficiency, or a subtype of Neuraminidase deficiency, affects less than 200,000 people in the US population.

Source - National Institutes of Health (NIH)

Neuritis with brachial predilection

Neuritis with brachial predilection: A neuromuscular disorder that tends to only affect the arm and hand. It causes muscle pain, weakness and wasting. Physical and emotional stress and pregnancy may trigger episodes. In rare cases the legs may be involved

Neuroblastoma

Neuroblastoma is a cancer that develops from immature nerve cells (neuroblasts) found in several areas of the body and most commonly arises in and around the adrenal glands, which have similar origins to nerve cells and sit atop the kidneys. However, neuroblastoma can also develop in other areas of the abdomen and in the chest, neck and near the spine, where groups of nerve cells exist.

Neuroblastoma most commonly affects children age 5 or younger, though it may rarely occur in older children.

Some forms of neuroblastoma go away on their own, while others may require multiple treatments. 

Neurocutaneous melanosis

Neurocutaneous melanosis: A rare genetic disorder characterized by melanosis of the skin and central nervous system deterioration

Neuroendocrine carcinoma of the cervix

Neuroendocrine carcinoma of the cervix is best defined separately:

Neuroendocrine: Of, relating to, or involving the interaction between the nervous system and the hormones of the endocrine glands.

Carcinoma: An invasive malignant tumor derived from epithelial tissue that tends to metastasize to other areas of the body.

Contents

Neuroendocrine carcinoma affects many different parts of the body.

In the cervix, it is a rare, but very aggressive form of cervical cancer. In its early stages, neuroendocrine carcinoma is asymptomatic (not showing or producing indications of a disease or other medical condition)

Neuroepithelioma

A malignant tumor of the retina of the eye.Ophanet, a consortium of European partners, currently defines a condition rare when if affects 1 person per 2,000. They list Neuroepithelioma as a "rare disease". The following list attempts to classify Neuroepithelioma into categories where each line is subset of the next. * malignant neoplasm,malignant tumor,metastatic tumor * neoplasm,tumor,tumour * growth * illness,malady,sickness,unwellness * health problem,ill health,unhealthiness * pathological state * condition,status * state

Neurofaciodigitorenal syndrome

A very rare syndrome characterized mainly by: * Mental retardation * Abnormal EEG * Seizures * Grooved nose tip * Prominent forehead