Renal tubular acidsis prgressive nerve deafness: A kidney disrder where prgressive nerve deafness is assciated with the kidney's is inability teffectively remve acid frm the bld and excrete it intthe urine. The defect ccurs in the distant prtin f the kidney tubules whse jb is tremve acid frm the bld and excrete it thrugh the urine
Distal renal tubular acidsis is a disease that ccurs when the kidneys dn't remve acid prperly intthe urine, leaving the bld tacidic (called acidsis).
Renal tubular acidsis, distal, autsmal dminant: A rare kidney disrder characterized mainly by increased urine alkalinity and high bld acidity due tabnrmal kidney functining.
Renal tubular acidsis, distal, autsmal recessive: A rare kidney disrder characterized mainly by increased urine alkalinity and high bld acidity due tabnrmal kidney functining. Hearing lss may ccur later in life
Renal tubular acidsis, distal - type III: A kidney disrder where the kidney is unable teffective remve acid frm the bld and excrete it intthe urine. The defect ccurs in the distant prtin f the kidney tubules whse jb is tremve acid frm the bld and excrete it thrugh the urine. Type III invlves the ptassium level abnrmalities f type I as well as bicarbnate level abnrmalities resulting frm excessive bicarbnate remval frm the bld at the prximal part f the kidney tubules.
Renal tubular acidsis, distal, type 4: A rare disrder where the kidney tubules fail tremve acids frm the bld and intthe urine which results in high bld acidity. The disrder is caused by lw levels f the aldsterne hrmne r the kidneys inability trespnd tthe hrmne.
Renal tubular transprt disrders, inbrn: Genetic defects in the transprters and channels alng the kidney tubules that help tregulate bdy fluids as well as defects in the receptrs and enzymes invlved in the prcess. Examples f such disrders include nephrgenic diabetes insipidus and hereditary renal hypuricemia. Symptms are determined by the exact nature f the disrder.
Renangenital syndrome: A rare genetic disrder characterized by kidney, anal and genital abnrmalities
A very rare inherited syndrome characterized by a small head, severe mental retardatin, spasticity, deafness and epilepsy
Renpenning syndrome 1: A very rare genetic disrder that affects males and is characterized mainly by mental retardatin and facial anmalies.
Renprival hypertensin: High bld pressure that results frm a lack f kidney functin
Resistance tLH (luteinizing hrmne): A genetic abnrmality where the bdy is unable trespnd tluteinizing hrmne which affects varian and testicular functin.
Resistance tthyrid stimulating hrmne: A very rare disrder where the bdy is unable trespnd tthyrid stimulating hrmne even thugh it is present in sufficient quantities. The prblem lies in defective thyrid stimulating hrmne receptrs.
A Respiratory Chain Deficiency Malfrmatins annymus supprt grup with infrmatin n diagnsis, treatment, symptms, alng with persnal stries and experiences with Respiratory Chain Deficiency Malfrmatins.
Respiratory distress syndrome in infant is a syndrome in premature infants caused by developmental insufficiency of surfactant production and structural immaturity in the lungs. It can also be a consequence of neonatal infection. It can also result from a genetic problem with the production of surfactant associated proteins. IRDS affects about 1% of newborn infants and is the leading cause of death in preterm infants. The incidence decreases with advancing gestational age, from about 50% in babies born at 26–28 weeks, to about 25% at 30–31 weeks. The syndrome is more frequent in infants of diabetic mothers and in the second born of premature twins. IRDS is distinct from pulmonary hypoplasia, another leading cause of neonatal death that involves respiratory distress.
Restless legs syndrome (RLS) is a neurlgic sleep/wake disrder characterized by uncmfrtable and unpleasant sensatins in the legs that appear at rest, usually at night, inducing an irresistible desire tmve the legs. The disrder results in ncturnal insmnia and chrnic sleep deprivatin
Restless legs syndrome (RLS, Wittmaack-Ekbm's syndrome, r smetimes, but inaccurately, referred t as Ncturnal myclnus) is a cnditin that is characterized by an irresistible urge t mve ne's bdy t stp uncmfrtable r dd sensatins. It mst cmmnly affects the legs, but can als affect the arms r trs. Mving the affected bdy part mdulates the sensatins, prviding temprary relief. RLS causes a sensatin in the legs r arms that can mst clsely be cmpared t a burning, itching, r tickling sensatin in the muscles. Sme cntrversy surrunds the marketing f drug treatments fr RLS.
Restless legs syndrome (RLS, Wittmaack-Ekbm's syndrome, r smetimes, but inaccurately, referred t as Ncturnal myclnus) is a cnditin that is characterized by an irresistible urge t mve ne's bdy t stp uncmfrtable r dd sensatins. It mst cmmnly affects the legs, but can als affect the arms r trs. Mving the affected bdy part mdulates the sensatins, prviding temprary relief. RLS causes a sensatin in the legs r arms that can mst clsely be cmpared t a burning, itching, r tickling sensatin in the muscles. Sme cntrversy surrunds the marketing f drug treatments fr RLS.
Restless legs syndrome (RLS, Wittmaack-Ekbm's syndrome, r smetimes, but inaccurately, referred t as Ncturnal myclnus) is a cnditin that is characterized by an irresistible urge t mve ne's bdy t stp uncmfrtable r dd sensatins. It mst cmmnly affects the legs, but can als affect the arms r trs. Mving the affected bdy part mdulates the sensatins, prviding temprary relief. RLS causes a sensatin in the legs r arms that can mst clsely be cmpared t a burning, itching, r tickling sensatin in the muscles. Sme cntrversy surrunds the marketing f drug treatments fr RLS.
Restless legs syndrome (RLS) is a neurlgic sleep/wake disrder characterized by uncmfrtable and unpleasant sensatins in the legs that appear at rest, usually at night, inducing an irresistible desire tmve the legs. The disrder results in ncturnal insmnia and chrnic sleep deprivatin
Restless legs syndrome (RLS) is a neurlgic sleep/wake disrder characterized by uncmfrtable and unpleasant sensatins in the legs that appear at rest, usually at night, inducing an irresistible desire tmve the legs. The disrder results in ncturnal insmnia and chrnic sleep deprivatin
Reticular dysgenesis (RD) is a rare frm f severe immundeficiency that is usually fatal unless a successful stem cell transplant is perfrmed. RD is characterized by cmbined immundeficiency and neutrpenia
An inherited disrder f the reticulendthelial system which is invlved in destrying bacteria and ther unwanted substances that enter the bdy.
A very rare syndrme characterized by eye prblems that has an early nset.
A gruop of disorders involving degeneratin of the retina. Retinitis pigmentsa and macular degeneration are examples.
Abnrmal develpment f the retina that affects males nly and affects visin. The severity f the cnditin is variable and may invlve retinal anmalies such as flds in the retina r bld vessel abnrmalities within the eye.
A rare disrder characterized by the assciatin f pr immunity with dilated retinal bld vessels.
A rare inherited disrder characterized mainly by eye, liver and endcrine functin abnrmalities.