Topic: Bartter syndrome
Question: What are the symptoms of Bartter syndrome ?
Answer: What are the signs and symptoms of Bartter syndrome? The signs and symptoms associated with Bartter syndrome can vary depending on the form of Bartter syndrome an affected individual has. The antenatal forms (beginning before birth) can be life-threatening, while the classical form, beginning in early childhood, tends to be less severe. The antenatal forms of Bartter syndrome (types I, II and IV) may first be characterized by abnormally high levels of amniotic fluid surrounding the affected fetus (polyhydramnios); premature delivery; and possibly life-threatening salt (sodium-chloride) loss. Affected newborns may have fever, vomiting, diarrhea, failure to thrive, delayed growth, intellectual disability, and/or distinctive facial features (triangular face, prominent forehead, large eyes, protruding ears, and drooping mouth). Individuals with type IV may also have sensorineural deafness (hearing loss caused by abnormalities in the inner ear). Classical Bartter syndrome typically becomes apparent in infancy and is characterized by failure to thrive and constipation in the first year of life. Symptoms may include salt craving, fatigue, muscle weakness, growth delay and developmental delay. Loss of excess sodium chloride through the urine can lead to dehydration, constipation, and increased urine production (polyuria). Loss of excess calcium through the urine (hypercalciuria) can cause weakening of the bones (osteopenia). When this excess calcium becomes deposited in the kidneys, tissue in the kidneys can become hardened (nephrocalcinosis). Low levels of potassium in the blood (hypokalemia) cause the muscle weakness, cramping, and fatigue in affected individuals. The Human Phenotype Ontology provides the following list of signs and symptoms for Bartter syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal renal physiology 90% Abnormality of metabolism/homeostasis 90% Short stature 90% Hypocalciuria 7.5% Hypomagnesemia 7.5% Abnormality of the choroid - Abnormality of the retinal vasculature - Abnormality of the sclera - Autosomal recessive inheritance - Chondrocalcinosis - Congenital onset - Constipation - Decreased glomerular filtration rate - Dehydration - Diarrhea - Edema - Failure to thrive - Fetal polyuria - Fever - Frontal bossing - Generalized muscle weakness - Global glomerulosclerosis - Heterogeneous - Hydrops fetalis - Hyperactive renin-angiotensin system - Hyperaldosteronism - Hypercalciuria - Hyperchloridura - Hypernatriuria - Hyperprostaglandinuria - Hypochloremia - Hypokalemia - Hypokalemic hypochloremic metabolic alkalosis - Hypokalemic metabolic alkalosis - Hyponatremia - Hyporeflexia - Hyposthenuria - Hypotension - Impaired platelet aggregation - Impaired reabsorption of chloride - Increased circulating renin level - Increased serum prostaglandin E2 - Increased urinary potassium - Intellectual disability - Large eyes - Low-to-normal blood pressure - Macrocephaly - Macrotia - Motor delay - Muscle cramps - Muscular hypotonia - Nephrocalcinosis - Osteopenia - Paresthesia - Polydipsia - Polyhydramnios - Polyuria - Premature birth - Prominent forehead - Reduced renal corticomedullary differentiation - Renal insufficiency - Renal juxtaglomerular cell hypertrophy/hyperplasia - Renal potassium wasting - Renal salt wasting - Seizures - Sensorineural hearing impairment - Small for gestational age - Tetany - Triangular face - Tubulointerstitial fibrosis - Vomiting - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
(Source: GARD)