Bartter syndrome natural history, complications and prognosis: Difference between revisions
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==Overview== | ==Overview== | ||
Bartter Syndrome usually occurs in childhood. [[Bartter syndrome]] type I and type II are salt-wasting renal tubular disorders that are clinically characterized by [[polyhydramnios]] leading to [[premature delivery]], marked [[polyuria]], and a tendency towards [[nephrocalcinosis]]. Common complications of [[Bartter syndrome]] include [[Gallstones]], [[Rhabdomyolysis]], [[Prolonged QT interval]], Life-threatening [[arrhythmia]], [[Syncope]], [[Sudden death]], weakening of the bones and Renal failure. The limited prognostic information available suggests that early diagnosis and appropriate treatment of infants and young children with classic [[Bartter Syndrome]] (type 3) may improve growth and perhaps neuro-intellectual development. On the other hand, sustained [[hypokalemia]] and [[hyperreninemia]] can cause progressive [[tubulointerstitial nephritis]], resulting in [[end-stage renal disease]] (Kidney failure). With the early treatment of the [[electrolyte]] imbalances, the prognosis for patients with Classic [[Bartter Syndrome]] is good. Patients with [[Bartter syndrome]] type I and II tend to present a satisfactory prognosis after a median follow-up of more than 10 years. | |||
==Natural History== | ==Natural History== | ||
*Bartter Syndrome usually occurs in childhood. Patient presents with the history of: | *Bartter Syndrome usually occurs in childhood. Patient presents with the history of: | ||
Latest revision as of 20:17, 5 August 2020
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]Associate Editor(s)-in-Chief: Tayyaba Ali, M.D.[2]
Overview
Bartter Syndrome usually occurs in childhood. Bartter syndrome type I and type II are salt-wasting renal tubular disorders that are clinically characterized by polyhydramnios leading to premature delivery, marked polyuria, and a tendency towards nephrocalcinosis. Common complications of Bartter syndrome include Gallstones, Rhabdomyolysis, Prolonged QT interval, Life-threatening arrhythmia, Syncope, Sudden death, weakening of the bones and Renal failure. The limited prognostic information available suggests that early diagnosis and appropriate treatment of infants and young children with classic Bartter Syndrome (type 3) may improve growth and perhaps neuro-intellectual development. On the other hand, sustained hypokalemia and hyperreninemia can cause progressive tubulointerstitial nephritis, resulting in end-stage renal disease (Kidney failure). With the early treatment of the electrolyte imbalances, the prognosis for patients with Classic Bartter Syndrome is good. Patients with Bartter syndrome type I and II tend to present a satisfactory prognosis after a median follow-up of more than 10 years.
Natural History
- Bartter Syndrome usually occurs in childhood. Patient presents with the history of:
- Constipation
- Growth failure. The rate of weight gain is much lower than that of other children of similar age and gender.
- Increased urinary frequency. The patient needs to urinate more often than usual.
- Low blood pressure
- Nephrolithiasis (Kidney stones)
- Muscle cramping and weakness[1]
Complications
- Bartter syndrome type I and type II are salt-wasting renal tubular disorders that are clinically characterized by polyhydramnios leading to premature delivery, marked polyuria, and a tendency towards nephrocalcinosis.[2]
- Gallstones might represent a new complication of antenatal Bartter syndrome.[3] Gallstone formation might result from an altered function of either the sodium–potassium–chloride cotransporter or the channel ROMK within the hepatobiliary system.[3]
- Hypokalemia in Bartter syndrome can be exacerbated by electrolytes and fluid losses. Diarrhea, vomiting, alcohol abuse, cocaine, or other drugs result in electrolyte and fluid loss. Severe hypokalemia can lead to rhabdomyolysis, prolonged QT interval, life-threatening arrhythmia, syncope, and sudden death.[4][5]
- Glomerular filtration rate of <90 mL/min/1.73 m2, sometimes associated with overt proteinuria.
- Prolonged hypokalemia can lead to interstitial fibrosis and tubular atrophy.[6]
- Large amounts of calcium are lost through the urine (hypercalciuria), which can cause weakening of the bones (osteopenia).[7]
- Untreated cases are associated with significant morbidity and mortality with a major contribution from chronic kidney disease. Kidney failure is a possible complication due to interstitial fibrosis, and may require renal replacement therapy.[8]
Prognosis
- The prognosis is based on mutations or depends on the degree of the receptor dysfunction.[8]
- The limited prognostic information available suggests that early diagnosis and appropriate treatment of infants and young children with classic Bartter Syndrome (type 3) may improve growth and perhaps neuro-intellectual development. On the other hand, sustained hypokalemia and hyperreninemia can cause progressive tubulointerstitial nephritis, resulting in end-stage renal disease (Kidney failure). With the early treatment of the electrolyte imbalances, the prognosis for patients with Classic Bartter Syndrome is good.
- Patients with Bartter syndrome type I and II tend to present a satisfactory prognosis after a median follow-up of more than 10 years.[3]
References
- ↑ "Bartter syndrome: MedlinePlus Medical Encyclopedia".
- ↑ Seyberth HW (2008). "An improved terminology and classification of Bartter-like syndromes". Nat Clin Pract Nephrol. 4 (10): 560–7. doi:10.1038/ncpneph0912. PMID 18695706.
- ↑ 3.0 3.1 3.2 Puricelli E, Bettinelli A, Borsa N, Sironi F, Mattiello C, Tammaro F; et al. (2010). "Long-term follow-up of patients with Bartter syndrome type I and II". Nephrol Dial Transplant. 25 (9): 2976–81. doi:10.1093/ndt/gfq119. PMID 20219833.
- ↑ Hacihamdioglu DO, Fidanci K, Kilic A, Gok F, Topaloglu R (2013). "QT and JT dispersion and cardiac performance in children with neonatal Bartter syndrome: a pilot study". Pediatr Nephrol. 28 (10): 1969–74. doi:10.1007/s00467-013-2517-5. PMID 23760993.
- ↑ Scognamiglio R, Negut C, Calò LA (2007). "Aborted sudden cardiac death in two patients with Bartter's/Gitelman's syndromes". Clin Nephrol. 67 (3): 193–7. doi:10.5414/cnp67193. PMID 17390745.
- ↑ Reungjui S, Roncal CA, Sato W, Glushakova OY, Croker BP, Suga S; et al. (2008). "Hypokalemic nephropathy is associated with impaired angiogenesis". J Am Soc Nephrol. 19 (1): 125–34. doi:10.1681/ASN.2007030261. PMC 2391040. PMID 18178802.
- ↑ "Bartter syndrome - Genetics Home Reference - NIH".
- ↑ 8.0 8.1 Al Shibli A, Narchi H (2015). "Bartter and Gitelman syndromes: Spectrum of clinical manifestations caused by different mutations". World J Methodol. 5 (2): 55–61. doi:10.5662/wjm.v5.i2.55. PMC 4482822. PMID 26140272.