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Homozygous WNT9B variants in two families with bilateral renal agenesis/hypoplasia/dysplasia.
Lemire G, Zheng B, Ediae GU, Zou R, Bhola PT, Chisholm C, de Nanassy J, Lo B, Wang C, Shril S, El Desoky S, Shalaby M, Kari JA, Wang X; Care4Rare Canada Consortium; Kernohan KD, Boycott KM, Hildebrandt F, Sawyer SL. Lemire G, et al. Am J Med Genet A. 2021 Oct;185(10):3005-3011. doi: 10.1002/ajmg.a.62398. Epub 2021 Jun 19. Am J Med Genet A. 2021. PMID: 34145744 Free PMC article.
The proband from Family 1 has bilateral renal cystic dysplasia and chronic kidney disease. He has two deceased siblings who presented with bilateral renal hypoplasia/agenesis. The three affected family members were homozygous for a missense variant in WNT9B ( …
The proband from Family 1 has bilateral renal cystic dysplasia and chronic kidney disease. He has two deceased siblings who presented with …
Outcome following prenatal diagnosis of severe bilateral renal hypoplasia.
Spaggiari E, Stirnemann JJ, Heidet L, Dreux S, Ville Y, Oury JF, Delezoide AL, Muller F. Spaggiari E, et al. Prenat Diagn. 2013 Dec;33(12):1167-72. doi: 10.1002/pd.4217. Epub 2013 Sep 1. Prenat Diagn. 2013. PMID: 23943585
OBJECTIVE: The aim of this research was to evaluate the outcome and prognostic value of fetal serum beta2-microglobulin in case of prenatal diagnosis of severe bilateral renal hypoplasia. METHODS: Cases of hypoplastic kidneys were detected on ultrasound and r …
OBJECTIVE: The aim of this research was to evaluate the outcome and prognostic value of fetal serum beta2-microglobulin in case of prenatal …
Bilateral Renal Hypoplasia with High beta2-Microglobulinuria in the Neonatal Period.
Nagai S, Fujioka K, Minamikawa S, Nozu K, Iijima K. Nagai S, et al. Kobe J Med Sci. 2021 Aug 2;67(1):E34-E37. Kobe J Med Sci. 2021. PMID: 34344855 Free PMC article.
Herein, we reported a patient with persistent high urinary beta2-MG levels since neonatal period, who was later diagnosed with bilateral renal hypoplasia. If a newborn presents persistent hyper beta2-microglobulinuria even without hematuria or proteinuria, co …
Herein, we reported a patient with persistent high urinary beta2-MG levels since neonatal period, who was later diagnosed with bilateral …
Winter syndrome: about an uncommon case report.
Slaoui A, Talib S, Kallali A, Rouijel M, Baydada A. Slaoui A, et al. BMC Womens Health. 2020 Apr 21;20(1):76. doi: 10.1186/s12905-020-00951-5. BMC Womens Health. 2020. PMID: 32316964 Free PMC article.
This syndrome is characterized by autosomal recessive transmission, unilateral or bilateral renal hypoplasia, distal vaginal atresia, and moderate to severe conductive hearing loss with malformation of the ossicles. ...
This syndrome is characterized by autosomal recessive transmission, unilateral or bilateral renal hypoplasia, distal va …
Evaluation of screening with urine dipsticks and renal ultrasonography for 3-year-olds in Chiba City over 30 years.
Matsumura C, Kanemoto K, Uno Y, Kobayashi M, Masuda M, Imasawa T, Hisano M, Homma S, Honda M, Nozu K, Yamaguchi J. Matsumura C, et al. Clin Exp Nephrol. 2022 Dec;26(12):1208-1217. doi: 10.1007/s10157-022-02265-2. Epub 2022 Sep 3. Clin Exp Nephrol. 2022. PMID: 36056980
We detected 6 stage 3-4 chronic kidney disease (CKD) and 3 end-stage kidney disease cases, including 3 CAKUT, comprising 2 bilateral renal hypoplasia and 1 vesicoureteral reflux (VUR), and 6 glomerular diseases, comprising 4 focal segmental glomerulosclerosis …
We detected 6 stage 3-4 chronic kidney disease (CKD) and 3 end-stage kidney disease cases, including 3 CAKUT, comprising 2 bilateral …
Outcome after prenatal diagnosis of congenital anomalies of the kidney and urinary tract.
Nef S, Neuhaus TJ, Spartà G, Weitz M, Buder K, Wisser J, Gobet R, Willi U, Laube GF. Nef S, et al. Eur J Pediatr. 2016 May;175(5):667-76. doi: 10.1007/s00431-015-2687-1. Epub 2016 Jan 25. Eur J Pediatr. 2016. PMID: 26805407
WHAT IS KNOWN: In congenital anomalies of the kidney and urinary tract significantly poorer outcome is known in patients with bilateral renal hypoplasia or solitary kidney associated with posterior urethral valves. ...
WHAT IS KNOWN: In congenital anomalies of the kidney and urinary tract significantly poorer outcome is known in patients with bilateral …
Fetal serum ss2-microglobulin and cystatin C in the prediction of post-natal renal function in bilateral hypoplasia and hyperechogenic enlarged kidneys.
Muller F, Dreux S, Audibert F, Chabaud JJ, Rousseau T, D'Hervé D, Dumez Y, Ngo S, Gubler MC, Dommergues M. Muller F, et al. Prenat Diagn. 2004 May;24(5):327-32. doi: 10.1002/pd.866. Prenat Diagn. 2004. PMID: 15164404
However, whereas normal values cannot exclude renal failure, abnormal values predict post-natal renal failure. CONCLUSIONS: In bilateral renal hypoplasia and dysplasia, fetal serum ss2-microglobulin and cystatin C are good markers for post-natal renal functio …
However, whereas normal values cannot exclude renal failure, abnormal values predict post-natal renal failure. CONCLUSIONS: In bilateral …
Urinary bladder agenesis and renal hypoplasia potentially related to in utero Zika virus infection.
Villamil-Gómez WE, Padilla-Ruiz D, Mendoza A, Álvarez Á, Baldrich-Gomez O, Posso H, Campo-Urbina M, Parra-Saad EA, Rodríguez-Morales AJ. Villamil-Gómez WE, et al. Int J Infect Dis. 2019 Aug;85:54-56. doi: 10.1016/j.ijid.2019.05.021. Epub 2019 May 24. Int J Infect Dis. 2019. PMID: 31129423 Free article.
The poor prognosis led to the decision to terminate the pregnancy. Autopsy of the fetus revealed severe bilateral renal hypoplasia....
The poor prognosis led to the decision to terminate the pregnancy. Autopsy of the fetus revealed severe bilateral renal hyp …
Antenatal oligohydramnios of renal origin: postnatal therapeutic and prognostic challenges.
Kemper MJ, Neuhaus TJ, Timmermann K, Hueneke B, Laube G, Harps E, Mueller-Wiefel DE. Kemper MJ, et al. Clin Nephrol. 2001 Dec;56(6):S9-12. Clin Nephrol. 2001. PMID: 11770813
The underlying final diagnoses were autosomal-recessive polycystic kidney disease (ARPKD, n = 2), familial tubular dysgenesis (n = 2) and bilateral renal hypoplasia (n = 6) including 3 children with posterior urethral valves. ...
The underlying final diagnoses were autosomal-recessive polycystic kidney disease (ARPKD, n = 2), familial tubular dysgenesis (n = 2) and …
Congenital cavitary optic disc anomaly and Axenfeld's anomaly in Wolf-Hirschhorn syndrome: A case report and review of the literature.
Ali MH, Azar NF, Aakalu V, Chau FY, Abbasian J, Setabutr P, Maumenee IH. Ali MH, et al. Ophthalmic Genet. 2018 Apr;39(2):271-274. doi: 10.1080/13816810.2017.1408850. Epub 2017 Dec 4. Ophthalmic Genet. 2018. PMID: 29199884 Free PMC article. Review.
Systemic findings included "Greek warrior helmet" facies, hypotonia, cleft palate, neonatal tooth eruption, talipes equinovarus, bilateral clinodactyly, clitoromegaly, partial agenesis of the corpus callosum, bilateral renal hypoplasia, and two atrial septal …
Systemic findings included "Greek warrior helmet" facies, hypotonia, cleft palate, neonatal tooth eruption, talipes equinovarus, bilateral c …
29 results