Display Settings:

Format

Send to:

Choose Destination
We are sorry, but NCBI web applications do not support your browser and may not function properly. More information

Bartter syndrome antenatal type 2

MedGen UID:
343428
Concept ID:
C1855849
Disease or Syndrome
Synonyms: Hyperprostaglandin E syndrome 2; Hypokalemic alkalosis with hypercalciuria antenatal 2
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Autosomal recessive inheritance refers to genetic conditions that occur only when mutations are present in both copies of a given gene (i.e., the person is homozygous for a mutation, or carries two different mutations of the same gene, a state referred to as compound heterozygosity).
 
Gene: KCNJ1
Cytogenetic location: 11q24.3
OMIM: 241200

Definition

Bartter syndrome is a group of very similar kidney disorders that cause an imbalance of potassium, sodium, chloride, and related molecules in the body. In some cases, Bartter syndrome becomes apparent before birth. The disorder can cause polyhydramnios, which is an increased volume of fluid surrounding the fetus (amniotic fluid). Polyhydramnios increases the risk of premature birth. Beginning in infancy, affected individuals often fail to grow and gain weight at the expected rate (failure to thrive). They lose excess amounts of salt (sodium chloride) in their urine, which leads to dehydration, constipation, and increased urine production (polyuria). In addition, large amounts of calcium are lost through the urine (hypercalciuria), which can cause weakening of the bones (osteopenia). Some of the calcium is deposited in the kidneys as they are concentrating urine, leading to hardening of the kidney tissue (nephrocalcinosis). Bartter syndrome is also characterized by low levels of potassium in the blood (hypokalemia), which can result in muscle weakness, cramping, and fatigue. Rarely, affected children develop hearing loss caused by abnormalities in the inner ear (sensorineural deafness). Two major forms of Bartter syndrome are distinguished by their age of onset and severity. One form begins before birth (antenatal) and is often life-threatening. The other form, often called the classical form, begins in early childhood and tends to be less severe. Once the genetic causes of Bartter syndrome were identified, researchers also split the disorder into different types based on the genes involved. Types I, II, and IV have the features of antenatal Bartter syndrome. Because type IV is also associated with hearing loss, it is sometimes called antenatal Bartter syndrome with sensorineural deafness. Type III usually has the features of classical Bartter syndrome.
[from GHR]

Clinical features

Nephrocalcinosis
MedGen UID:
504348
Concept ID:
CN000117
Finding
Nephrocalcinosis is the deposition of calcium salts in renal parenchyma.
Renal salt wasting
MedGen UID:
504354
Concept ID:
CN000123
Finding
A high concentration of one or more electrolytes in the urine in the presence of low serum concentrations of the electrolyte(s).
Frontal bossing
MedGen UID:
505049
Concept ID:
CN001816
Finding
Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline.
Global developmental delay
MedGen UID:
504774
Concept ID:
CN001157
Finding
A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
Paresthesia
MedGen UID:
505532
Concept ID:
CN003069
Finding
Abnormal sensations such as tingling, pricking, or numbness of the skin with no apparent physical cause.
Increased circulating renin level
MedGen UID:
504625
Concept ID:
CN000794
Finding
An increased level of renin (PRO:000013883) in the `blood` (FMA:9670).
Chondrocalcinosis
MedGen UID:
504652
Concept ID:
CN000875
Finding
Radiographic evidence of articular calcification that represent calcium pyrophosphate depositions in soft tissue surrounding joints and at the insertions of tendons near joints (Entheses/Sharpey fibers) .
Frontal bossing
MedGen UID:
505049
Concept ID:
CN001816
Finding
Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline.
Polyhydramnios
MedGen UID:
504854
Concept ID:
CN001423
Finding
The presence of excess amniotic fluid in the uterus during pregnancy.
Small for gestational age
MedGen UID:
44199
Concept ID:
C0024032
Finding
Refers to a fetus or infant who is smaller than expected for the age or gender, or who has a birth weight less than the 10th percentile.
Fever
MedGen UID:
5169
Concept ID:
C0015967
Finding
A fever is a body temperature that is higher than normal. It is not an illness. It is part of your body's defense against infection. Most bacteria and viruses that cause infections do well at the body's normal temperature (98.6 F). A slight fever can make it harder for them to survive. Fever also activates your body's immune system. Infections cause most fevers. There can be many other causes, including: - Medicines. - Heat exhaustion. - Cancers. - Autoimmune diseases. Treatment depends on the cause of your fever. Your health care provider may recommend using over-the-counter medicines such as acetaminophen or ibuprofen to lower a very high fever. Adults can also take aspirin, but children with fevers should not take aspirin. It is also important to drink enough liquids to prevent dehydration.
Hypokalemia
MedGen UID:
5712
Concept ID:
C0020621
Finding
A disorder characterized by laboratory test results that indicate a low concentration of potassium in the blood.
Hypomagnesemia
MedGen UID:
57481
Concept ID:
C0151723
Finding
Hypomagnesemia is an electrolyte disturbance in which there is an abnormally low level of magnesium in the blood (less than 0.7 mmol/L)
Renal salt wasting
MedGen UID:
504354
Concept ID:
CN000123
Finding
A high concentration of one or more electrolytes in the urine in the presence of low serum concentrations of the electrolyte(s).
Hypochloremia
MedGen UID:
505454
Concept ID:
CN002807
Finding
An abnormally decreased `chloride` (CHEBI:17996) concentration in the blood.
Tetany
MedGen UID:
504785
Concept ID:
CN001174
Finding
A disorder characterized by muscle twitches, cramps, and carpopedal spasm, and when severe, laryngospasm and seizures. This condition is associated with unstable depolarization of axonal membranes, primarily in the peripheral nervous system.
Muscle cramps
MedGen UID:
505530
Concept ID:
CN003063
Finding
Sudden and involuntary contractions of one or more muscles.
Chondrocalcinosis
MedGen UID:
504652
Concept ID:
CN000875
Finding
Radiographic evidence of articular calcification that represent calcium pyrophosphate depositions in soft tissue surrounding joints and at the insertions of tendons near joints (Entheses/Sharpey fibers) .

Recent clinical studies

Etiology

Fretzayas A, Gole E, Attilakos A, Daskalaki A, Nicolaidou P, Papadopoulou A
Pediatr Int 2013 Jun;55(3):371-3. doi: 10.1111/j.1442-200X.2012.03716.x. PMID: 23782368
Puricelli E, Bettinelli A, Borsa N, Sironi F, Mattiello C, Tammaro F, Tedeschi S, Bianchetti MG; Italian Collaborative Group for Bartter Syndrome
Nephrol Dial Transplant 2010 Sep;25(9):2976-81. Epub 2010 Mar 10 doi: 10.1093/ndt/gfq119. [Epub ahead of print] PMID: 20219833
Yamazaki H, Nozu K, Narita I, Nagata M, Nozu Y, Fu XJ, Matsuo M, Iijima K, Gejyo F
Pediatr Nephrol 2009 Feb;24(2):415-8. Epub 2008 Oct 2 doi: 10.1007/s00467-008-0999-3. [Epub ahead of print] PMID: 18830715
Finer G, Shalev H, Birk OS, Galron D, Jeck N, Sinai-Treiman L, Landau D
J Pediatr 2003 Mar;142(3):318-23. doi: 10.1067/mpd.2003.100. PMID: 12640382
Bettinelli A, Ciarmatori S, Cesareo L, Tedeschi S, Ruffa G, Appiani AC, Rosini A, Grumieri G, Mercuri B, Sacco M, Leozappa G, Binda S, Cecconi M, Navone C, Curcio C, Syren ML, Casari G
Pediatr Nephrol 2000 Sep;14(10-11):940-5. PMID: 10975303

Diagnosis

Grasso V, Colombo C, Favalli V, Galderisi A, Rabbone I, Gombos S, Bonora E, Massa O, Meschi F, Cerutti F, Iafusco D, Bonfanti R, Monciotti C, Barbetti F
Acta Diabetol 2013 Dec;50(6):951-7. Epub 2013 Jul 4 doi: 10.1007/s00592-013-0490-x. [Epub ahead of print] PMID: 23824322
Fretzayas A, Gole E, Attilakos A, Daskalaki A, Nicolaidou P, Papadopoulou A
Pediatr Int 2013 Jun;55(3):371-3. doi: 10.1111/j.1442-200X.2012.03716.x. PMID: 23782368
Westland R, Hack WW, van der Horst HJ, Uittenbogaard LB, van Hagen JM, van der Valk P, Kamsteeg EJ, van den Heuvel LP, van Wijk JA
Clin Nephrol 2012 Dec;78(6):492-6. PMID: 23164417
Yamazaki H, Nozu K, Narita I, Nagata M, Nozu Y, Fu XJ, Matsuo M, Iijima K, Gejyo F
Pediatr Nephrol 2009 Feb;24(2):415-8. Epub 2008 Oct 2 doi: 10.1007/s00467-008-0999-3. [Epub ahead of print] PMID: 18830715
Finer G, Shalev H, Birk OS, Galron D, Jeck N, Sinai-Treiman L, Landau D
J Pediatr 2003 Mar;142(3):318-23. doi: 10.1067/mpd.2003.100. PMID: 12640382

Therapy

Carmosino M, Procino G, Svelto M
Biol Cell 2012 Apr;104(4):201-12. Epub 2012 Jan 26 doi: 10.1111/boc.201100049. [Epub ahead of print] PMID: 22211456

Prognosis

Fretzayas A, Gole E, Attilakos A, Daskalaki A, Nicolaidou P, Papadopoulou A
Pediatr Int 2013 Jun;55(3):371-3. doi: 10.1111/j.1442-200X.2012.03716.x. PMID: 23782368
Puricelli E, Bettinelli A, Borsa N, Sironi F, Mattiello C, Tammaro F, Tedeschi S, Bianchetti MG; Italian Collaborative Group for Bartter Syndrome
Nephrol Dial Transplant 2010 Sep;25(9):2976-81. Epub 2010 Mar 10 doi: 10.1093/ndt/gfq119. [Epub ahead of print] PMID: 20219833
Yamazaki H, Nozu K, Narita I, Nagata M, Nozu Y, Fu XJ, Matsuo M, Iijima K, Gejyo F
Pediatr Nephrol 2009 Feb;24(2):415-8. Epub 2008 Oct 2 doi: 10.1007/s00467-008-0999-3. [Epub ahead of print] PMID: 18830715
Finer G, Shalev H, Birk OS, Galron D, Jeck N, Sinai-Treiman L, Landau D
J Pediatr 2003 Mar;142(3):318-23. doi: 10.1067/mpd.2003.100. PMID: 12640382

Clinical prediction guides

Grasso V, Colombo C, Favalli V, Galderisi A, Rabbone I, Gombos S, Bonora E, Massa O, Meschi F, Cerutti F, Iafusco D, Bonfanti R, Monciotti C, Barbetti F
Acta Diabetol 2013 Dec;50(6):951-7. Epub 2013 Jul 4 doi: 10.1007/s00592-013-0490-x. [Epub ahead of print] PMID: 23824322
Puricelli E, Bettinelli A, Borsa N, Sironi F, Mattiello C, Tammaro F, Tedeschi S, Bianchetti MG; Italian Collaborative Group for Bartter Syndrome
Nephrol Dial Transplant 2010 Sep;25(9):2976-81. Epub 2010 Mar 10 doi: 10.1093/ndt/gfq119. [Epub ahead of print] PMID: 20219833

Supplemental Content

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...