Renal dysplasia-limb defects syndrome (RL syndrome), alsknwn as Ulbright Hdes syndrome is a very rare[1] syndrome. The syndrome has been described in three infants, all f whm died shrtly after birth.[2] It is a cngenital syndrome[3] and is believed tfllw a autsmal recessive pattern f inheritance.
Renal dysplasia diffuse autsmal recessive is the mst cmmn heritable cystic renal disease ccurring in infancy and childhd. It is distinct frm autsmal dminant plycystic kidney disease (ADPKD), which tends tccur in an lder ppulatin. The clinical spectrum shws a wide variability, ranging frm perinatal death ta milder prgressive frm, which may nt be diagnsed until adlescence.
Diffuse cystic renal dysplasia (medical cnditin): Abnrmal kidney develpment characterized by the presence f numerus cysts thrughut the kidneys. In the reprted cases, death ccurs sn after birth.
Renal dysplasia - limb defects syndrme: A very rare syndrme characterized mainly by abnrmal kidney develpment and varius arm bne defects. Mre detailed infrmatin abut the symptms, causes, and treatments f Renal dysplasia - limb defects syndrme is available belw.
A Renal Dysplasia Megalcystis Sirenmelia annymus supprt grup with infrmatin n diagnsis, treatment, symptms, alng with persnal stries and experiences with Renal Dysplasia Megalcystis Sirenmelia
A very rare syndrme characterized mainly by kidney, genital and middle ear abnrmalities. Mre detailed infrmatin abut the symptms, causes, and treatments f Renal-genital-middle ear anmalies is available belw.
Renal glycsuria (medical cnditin): A rare metablic disrder where tmuch glucse passes intthe urinary system even thugh the bld glucse level is nrmal r lw. The cnditin may be due texcessive glucse in the urine r inability f the intestines tabsrb the glucse
Renal hepatic pancreatic dysplasia Dandy Walker cyst (medical cnditin): A very rare syndrme invlving abnrmal develpment f the kidneys, liver and pancreas as well as a brain cyst called a Dandy-Walker cyst
A rare inherited disrder characterized by lw bld uric acid level due tkidney dysfunctin. The kidney tubules fail tabsrb urate nrmally.
Renal pelvis and ureter, transitinal cell cancer: Cancer that develps in certain cells that make up the ureter and renal pelvis. The ureter is a tube that cnnects the kidney tthe bladder and the renal pelvis is a part f the kidney. Transitinal cells line the inside f the renal pelvis and the ureter.
Renal rickets: a frm f rickets ccurring in children in assciatin with and apparently caused by renal disease with hyperphsphatemia. SYN: pseudrickets, renal fibrcystic stesis, renal infantilism, renal steitis fibrsa.
Renal stedystrphy is a bne pathlgy, characterized by defective mineralizatin, that results frm kidney disease
Renal tubular acidsis (RTA) is a medical cnditin that invlves an accumulatin f acid in the bdy due ta failure f the kidneys tapprpriately acidify the urine.[1] When bld is filtered by the kidney, the filtrate passes thrugh the tubules f the nephrn, allwing fr exchange f salts, acid equivalents, and ther slutes befre it drains intthe bladder as urine. The metablic acidsis that results frm RTA may be caused either by failure trecver sufficient (alkaline) bicarbnate ins frm the filtrate in the early prtin f the nephrn (prximal tubule) r by insufficient secretin f (acid) hydrgen ins intthe latter prtins f the nephrn (distal tubule). Althugh a metablic acidsis alsccurs in thse with renal insufficiency, the term RTA is reserved fr individuals with pr urinary acidificatin in therwise well-functining kidneys. Several different types f RTA exist, which all have different syndrmes and different causes.
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.