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Urinary bladder, atony of(BAIPRCK)

MedGen UID:
1684829
Concept ID:
C5231389
Disease or Syndrome
Synonyms: BAIPRCK; BLADDER DYSFUNCTION, AUTONOMIC, WITH IMPAIRED PUPILLARY REFLEX AND SECONDARY CAKUT; URINARY BLADDER, ATONY OF
 
Gene (location): CHRNA3 (15q25.1)
 
Monarch Initiative: MONDO:0008630
OMIM®: 191800

Definition

Autonomic bladder dysfunction with impaired pupillary reflex and secondary CAKUT (congenital anomalies of the kidney and urinary tract) is an autosomal recessive neurogenic disorder with onset in utero or early childhood. Affected individuals have impaired neuronal bladder and ureteral innervation causing coordination defects that result in secondary structural defects of the renal system, including hydronephrosis, vesicoureteral reflux (VUR), and small kidneys, that may result in chronic kidney disease as well as recurrent urinary tract infections (UTIs). Surgical treatment of VUR is not effective. Most individuals also have additional autonomic features, most commonly impaired pupillary reflex and sometimes orthostatic hypotension (summary by Mann et al., 2019). [from OMIM]

Clinical features

From HPO
Neurogenic bladder
MedGen UID:
595
Concept ID:
C0005697
Disease or Syndrome
A type of bladder dysfunction caused by neurologic damage. Neurogenic bladder can be flaccid or spastic. Common manifestatios of neurogenic bladder are overflow incontinence, frequency, urgency, urge incontinence, and retention.
Hydronephrosis
MedGen UID:
42531
Concept ID:
C0020295
Disease or Syndrome
Severe distention of the kidney with dilation of the renal pelvis and calices.
Vesicoureteral reflux
MedGen UID:
21852
Concept ID:
C0042580
Disease or Syndrome
Vesicoureteral reflux (VUR) is characterized by the reflux of urine from the bladder into the ureters and sometimes into the kidneys. It is a risk factor for urinary tract infections. Primary VUR results from a developmental defect of the ureterovesical junction (UVJ). In combination with intrarenal reflux, the resulting inflammatory reaction may result in renal injury or scarring, also called reflux nephropathy (RN). Extensive renal scarring impairs renal function and may predispose patients to hypertension, proteinuria, and renal insufficiency (summary by Lu et al., 2007). Genetic Heterogeneity of Vesicoureteral Reflux A locus designated VUR1 maps to chromosome 1p13. VUR2 (610878) is caused by mutation in the ROBO2 gene (602431) on chromosome 3p12; VUR3 (613674) is caused by mutation in the SOX17 gene (610928) on chromosome 8q11; VUR4 (614317) maps to chromosome 5; VUR5 (614318) maps to chromosome 13; VUR6 (614319) maps to chromosome 18; VUR7 (615390) maps to chromosome 12; and VUR8 (615963) is caused by mutation in the TNXB gene (600985) on chromosome 6p21. A possible X-linked form has been reported (VURX; 314550).
Recurrent urinary tract infections
MedGen UID:
120466
Concept ID:
C0262655
Disease or Syndrome
Repeated infections of the urinary tract.
Hypospadias
MedGen UID:
163083
Concept ID:
C0848558
Congenital Abnormality
Abnormal position of urethral meatus on the ventral penile shaft (underside) characterized by displacement of the urethral meatus from the tip of the glans penis to the ventral surface of the penis, scrotum, or perineum.
Stage 2 chronic kidney disease
MedGen UID:
384525
Concept ID:
C2316786
Disease or Syndrome
A type of chronic kidney disease with mildly reduced glomerular filtration rate (GFR 60-89 mL/min/1.73 m2).
Failure to thrive
MedGen UID:
746019
Concept ID:
C2315100
Disease or Syndrome
Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.
Gastroesophageal reflux
MedGen UID:
1368658
Concept ID:
C4317146
Finding
A condition in which the stomach contents leak backwards from the stomach into the esophagus through the lower esophageal sphincter.
Orthostatic hypotension
MedGen UID:
43803
Concept ID:
C0020651
Disease or Syndrome
A form of hypotension characterized by a sudden fall in blood pressure that occurs when a person assumes a standing position.
Slow pupillary light response
MedGen UID:
868184
Concept ID:
C4022576
Finding
Reduced velocity and acceleration in the pupillary light response.

Professional guidelines

PubMed

Noël S, Claeys S, Hamaide A
Vet J 2010 Oct;186(1):10-7. Epub 2009 Sep 13 doi: 10.1016/j.tvjl.2009.08.002. PMID: 19751985
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J Urol 1980 Sep;124(3):334-7. doi: 10.1016/s0022-5347(17)55435-x. PMID: 7431497

Recent clinical studies

Etiology

Savchuk R, Kostyev F, Dekhtiar Y
Georgian Med News 2020 Sep;(306):7-10. PMID: 33130637
Wolf B, Espig O, Stolzenburg JU, Horn LC, Aktas B, Höckel M
BJOG 2020 Jun;127(7):859-865. Epub 2020 Mar 2 doi: 10.1111/1471-0528.16167. PMID: 32037645
Abdel-Aleem H, Aboelnasr MF, Jayousi TM, Habib FA
Cochrane Database Syst Rev 2014 Apr 11;2014(4):CD010322. doi: 10.1002/14651858.CD010322.pub2. PMID: 24729285Free PMC Article
Cheng L, Scheithauer BW, Leibovich BC, Ramnani DM, Cheville JC, Bostwick DG
Cancer 1999 Aug 1;86(3):505-13. PMID: 10430260
Schwartz RO
Obstet Gynecol 1993 Jun;81(6):1022-4. PMID: 8497344

Diagnosis

Gutierrez J, Sepulveda W, Ramirez R, Acosta G, Ambiado S
Fetal Pediatr Pathol 2022 Oct;41(5):818-822. Epub 2021 Aug 9 doi: 10.1080/15513815.2021.1963359. PMID: 34369260
Wolf B, Espig O, Stolzenburg JU, Horn LC, Aktas B, Höckel M
BJOG 2020 Jun;127(7):859-865. Epub 2020 Mar 2 doi: 10.1111/1471-0528.16167. PMID: 32037645
Gaitonde S, Malik RD, Christie AL, Zimmern PE
Int J Clin Pract 2019 Aug;73(8):e13248. Epub 2018 Aug 15 doi: 10.1111/ijcp.13248. PMID: 30112787
Abdel-Aleem H, Aboelnasr MF, Jayousi TM, Habib FA
Cochrane Database Syst Rev 2014 Apr 11;2014(4):CD010322. doi: 10.1002/14651858.CD010322.pub2. PMID: 24729285Free PMC Article
Cheng L, Scheithauer BW, Leibovich BC, Ramnani DM, Cheville JC, Bostwick DG
Cancer 1999 Aug 1;86(3):505-13. PMID: 10430260

Therapy

Gaitonde S, Malik RD, Christie AL, Zimmern PE
Int J Clin Pract 2019 Aug;73(8):e13248. Epub 2018 Aug 15 doi: 10.1111/ijcp.13248. PMID: 30112787
Abdel-Aleem H, Aboelnasr MF, Jayousi TM, Habib FA
Cochrane Database Syst Rev 2014 Apr 11;2014(4):CD010322. doi: 10.1002/14651858.CD010322.pub2. PMID: 24729285Free PMC Article
Mirhashemi R, Im S, Yazdani T
Curr Opin Obstet Gynecol 2004 Oct;16(5):419-22. doi: 10.1097/00001703-200410000-00011. PMID: 15353952
Legha SS
Med Toxicol 1986 Nov-Dec;1(6):421-7. doi: 10.1007/BF03259853. PMID: 3540519
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Cancer 1971 Sep;28(3):674-5. doi: 10.1002/1097-0142(197109)28:3<674::aid-cncr2820280323>3.0.co;2-j. PMID: 5286047

Prognosis

Buchanan J, Beckmann M
Aust N Z J Obstet Gynaecol 2014 Feb;54(1):41-5. Epub 2013 Oct 1 doi: 10.1111/ajo.12130. PMID: 24111705
Habek D, Becareviç R
Fetal Diagn Ther 2007;22(2):139-42. Epub 2006 Nov 28 doi: 10.1159/000097114. PMID: 17139172
Cheng L, Scheithauer BW, Leibovich BC, Ramnani DM, Cheville JC, Bostwick DG
Cancer 1999 Aug 1;86(3):505-13. PMID: 10430260
Kemp D, Tabaka N
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DeLaere KP, Debruyne FM, Michiels HG, Moonen WA
J Urol 1980 Sep;124(3):334-7. doi: 10.1016/s0022-5347(17)55435-x. PMID: 7431497

Clinical prediction guides

Wolf B, Espig O, Stolzenburg JU, Horn LC, Aktas B, Höckel M
BJOG 2020 Jun;127(7):859-865. Epub 2020 Mar 2 doi: 10.1111/1471-0528.16167. PMID: 32037645
Abdel-Aleem H, Aboelnasr MF, Jayousi TM, Habib FA
Cochrane Database Syst Rev 2014 Apr 11;2014(4):CD010322. doi: 10.1002/14651858.CD010322.pub2. PMID: 24729285Free PMC Article
Buchanan J, Beckmann M
Aust N Z J Obstet Gynaecol 2014 Feb;54(1):41-5. Epub 2013 Oct 1 doi: 10.1111/ajo.12130. PMID: 24111705
Cheng L, Scheithauer BW, Leibovich BC, Ramnani DM, Cheville JC, Bostwick DG
Cancer 1999 Aug 1;86(3):505-13. PMID: 10430260
Seski JC, Diokno AC
Am J Obstet Gynecol 1977 Jul 15;128(6):643-51. doi: 10.1016/0002-9378(77)90211-3. PMID: 18009

Recent systematic reviews

Abdel-Aleem H, Aboelnasr MF, Jayousi TM, Habib FA
Cochrane Database Syst Rev 2014 Apr 11;2014(4):CD010322. doi: 10.1002/14651858.CD010322.pub2. PMID: 24729285Free PMC Article

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