![]() Within a subtype, inter- and intrafamilial variability in rate of progression to ESRD is considerable. Adolescent/adult NPH is clinically similar to juvenile NPH, but ESRD develops at a median age of 19 years. Histologic findings include tubulointerstitial fibrosis, thickened and disrupted tubular basement membrane, sporadic corticomedullary cysts, and normal or reduced kidney size. Ultrasound findings are increased echogenicity, reduced corticomedullary differentiation, and renal cysts (in 50% of affected individuals). ESRD develops at a median age of 13 years. ![]() Hypertension is typically absent due to salt wasting. Juvenile NPH, the most prevalent subtype, typically presents with polydipsia and polyuria, growth retardation, chronic iron-resistant anemia, or other findings related to chronic kidney disease (CKD). Infantile NPH can present in utero with oligohydramnios sequence (limb contractures, pulmonary hypoplasia, and facial dysmorphisms) or postnatally with renal manifestations that progress to ESRD before age 3 years. Three age-based clinical subtypes are recognized: infantile, juvenile, and adolescent/adult. The nephronophthisis (NPH) phenotype is characterized by reduced renal concentrating ability, chronic tubulointerstitial nephritis, cystic renal disease, and progression to end-stage renal disease (ESRD) before age 30 years. The signs and symptoms of this condition vary among affected individuals, even among members of the same family. They develop Addison disease and achalasia during childhood or adolescence, and most of the neurologic features of triple A syndrome begin during adulthood. Other skin abnormalities may also be present in people with this condition.\n\nAlacrima is usually the first noticeable sign of triple A syndrome, as it becomes apparent early in life that affected children produce little or no tears while crying. Many of the neurological symptoms of triple A syndrome worsen over time.\n\nPeople with triple A syndrome frequently develop a thickening of the outer layer of skin (hyperkeratosis) on the palms of their hands and the soles of their feet. Some develop optic atrophy, which is the degeneration (atrophy) of the nerves that carry information from the eyes to the brain. In addition, affected individuals commonly experience muscle weakness, movement problems, and nerve abnormalities in their extremities (peripheral neuropathy). People with triple A syndrome often experience abnormal sweating, difficulty regulating blood pressure, unequal pupil size (anisocoria), and other signs and symptoms of autonomic nervous system dysfunction (dysautonomia).\n\nPeople with this condition may have other neurological abnormalities, such as developmental delay, intellectual disability, speech problems (dysarthria), and a small head size (microcephaly). This part of the nervous system controls involuntary body processes such as digestion, blood pressure, and body temperature. Most people with triple A syndrome have all three of these features, although some have only two.\n\nMany of the features of triple A syndrome are caused by dysfunction of the autonomic nervous system. The third major feature of triple A syndrome is a reduced or absent ability to secrete tears (alacrima). The main features of Addison disease include fatigue, loss of appetite, weight loss, low blood pressure, and darkening of the skin. ![]() ![]() Addison disease, also known as primary adrenal insufficiency, is caused by abnormal function of the small hormone-producing glands on top of each kidney (adrenal glands). It can lead to severe feeding difficulties and low blood sugar (hypoglycemia). Achalasia is a disorder that affects the ability to move food through the esophagus, the tube that carries food from the throat to the stomach. Triple A syndrome is an inherited condition characterized by three specific features: achalasia, Addison disease, and alacrima.
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