Reversed Cortico-medullary Differentiation in the Fetal and Neonatal Kidneys: an Indicator of Poor Prognosis?

Overview

Journal Pediatr Radiol

Specialty Pediatrics

Date 2023 Dec 27

PMID 38150104

Authors

Marie Cassart

Catherine Garel

Tim Ulinski

E Freddy Avni

Affiliations

Soon will be listed here.

Abstract

Background: Bilateral reversed cortico-medullary differentiation is rarely observed on fetal or neonatal renal ultrasound and is therefore a diagnostic challenge.

Objective: Our purpose was to widen the differential diagnoses of fetal and neonatal nephropathies introducing reversed cortico-medullary differentiation as a clue either on obstetric US or during follow-up of hyperechoic kidneys in order to improve the management of such rare clinical situations.

Materials And Methods: We retrospectively reviewed the US images of 11 patients showing bilateral reversed cortico-medullary differentiation on prenatal examination or in which this pattern developed postnatally in the follow-up of fetal hyperechoic kidneys. For each patient, a precise diagnosis was established either on clinical assessment or, when available, on histological or genetic findings.

Results: Six fetuses displayed bilateral reversed cortico-medullary differentiation on obstetric examination, and the pattern persisted throughout pregnancy. In the five other fetuses, the kidneys appeared initially homogeneously hyperechoic; this evolved into reversed cortico-medullary differentiation during the third trimester in two cases and shortly after birth in three cases. Two pregnancies were terminated because of estimated poor prognosis. In the nine surviving neonates, four died of renal failure in the post-natal period. The clinical evolution was more favorable in the remaining five newborns.

Conclusions: Six different diagnoses were established in patients presenting with a reversed cortico-medullary differentiation renal pattern. This finding was associated with poor outcome in six cases. An acute prenatal diagnosis of reversed cortico-medullary differentiation improves pre- and postnatal work-up and guides counseling and genetic testing.

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References

Chitty L, Altman D . Charts of fetal size: kidney and renal pelvis measurements. Prenat Diagn. 2003; 23(11):891-7. DOI: 10.1002/pd.693. View

Devriendt A, Cassart M, Massez A, Donner C, Avni F . Fetal kidneys: additional sonographic criteria of normal development. Prenat Diagn. 2013; 33(13):1248-52. DOI: 10.1002/pd.4240. View

Cassart M . Fetal uropathies: pre- and postnatal imaging, management and follow-up. Pediatr Radiol. 2022; 53(4):610-620. DOI: 10.1007/s00247-022-05433-4. View

Chaumoitre K, Brun M, Cassart M, Maugey-Laulom B, Eurin D, Didier F . Differential diagnosis of fetal hyperechogenic cystic kidneys unrelated to renal tract anomalies: A multicenter study. Ultrasound Obstet Gynecol. 2006; 28(7):911-7. DOI: 10.1002/uog.3856. View

Avni F, Garel C, Cassart M, DHaene N, Hall M, Riccabona M . Imaging and classification of congenital cystic renal diseases. AJR Am J Roentgenol. 2012; 198(5):1004-13. DOI: 10.2214/AJR.11.8083. View

Decramer S, Parant O, Beaufils S, Clauin S, Guillou C, Kessler S . Anomalies of the TCF2 gene are the main cause of fetal bilateral hyperechogenic kidneys. J Am Soc Nephrol. 2007; 18(3):923-33. DOI: 10.1681/ASN.2006091057. View

Hershkovitz R, Amichay K, Stein G, Tepper R . The echogenicity of the normal fetal kidneys during different stages of pregnancy determined objectively. Arch Gynecol Obstet. 2010; 284(4):807-11. DOI: 10.1007/s00404-010-1738-0. View

Shuster S, Keunen J, Shannon P, Watkins N, Chong K, Chitayat D . Prenatal detection of isolated bilateral hyperechogenic kidneys: Etiologies and outcomes. Prenat Diagn. 2019; 39(9):693-700. DOI: 10.1002/pd.5418. View

Tsatsaris V, Gagnadoux M, Aubry M, Gubler M, Dumez Y, Dommergues M . Prenatal diagnosis of bilateral isolated fetal hyperechogenic kidneys. Is it possible to predict long term outcome?. BJOG. 2002; 109(12):1388-93. DOI: 10.1046/j.1471-0528.2002.02055.x. View

10.

Daneman A, Navarro O, Somers G, Mohanta A, Jarrin J, Traubici J . Renal pyramids: focused sonography of normal and pathologic processes. Radiographics. 2010; 30(5):1287-307. DOI: 10.1148/rg.305095222. View

11.

Erger F, Bruchle N, Gembruch U, Zerres K . Prenatal ultrasound, genotype, and outcome in a large cohort of prenatally affected patients with autosomal-recessive polycystic kidney disease and other hereditary cystic kidney diseases. Arch Gynecol Obstet. 2017; 295(4):897-906. DOI: 10.1007/s00404-017-4336-6. View

12.

Santolaya J, Farolan M, Czapar J, Kambich M, Hauselman E, Hoganson G . Clinical and pathologic findings in 2 siblings with congenital nephrotic syndrome. Fetal Diagn Ther. 1994; 9(3):170-4. DOI: 10.1159/000263927. View

13.

Wang J, Mao J . The etiology of congenital nephrotic syndrome: current status and challenges. World J Pediatr. 2016; 12(2):149-58. DOI: 10.1007/s12519-016-0009-y. View

14.

Zenker M, Tralau T, Lennert T, Pitz S, Mark K, Madlon H . Congenital nephrosis, mesangial sclerosis, and distinct eye abnormalities with microcoria: an autosomal recessive syndrome. Am J Med Genet A. 2004; 130A(2):138-45. DOI: 10.1002/ajmg.a.30310. View

15.

Hureaux M, Molin A, Jay N, Saliou A, Spaggiari E, Salomon R . Prenatal hyperechogenic kidneys in three cases of infantile hypercalcemia associated with SLC34A1 mutations. Pediatr Nephrol. 2018; 33(10):1723-1729. DOI: 10.1007/s00467-018-3998-z. View

16.

Pronicka E, Ciara E, Halat P, Janiec A, Wojcik M, Rowinska E . Biallelic mutations in CYP24A1 or SLC34A1 as a cause of infantile idiopathic hypercalcemia (IIH) with vitamin D hypersensitivity: molecular study of 11 historical IIH cases. J Appl Genet. 2017; 58(3):349-353. PMC: 5509812. DOI: 10.1007/s13353-017-0397-2. View

17.

Schlingmann K, Ruminska J, Kaufmann M, Dursun I, Patti M, Kranz B . Autosomal-Recessive Mutations in SLC34A1 Encoding Sodium-Phosphate Cotransporter 2A Cause Idiopathic Infantile Hypercalcemia. J Am Soc Nephrol. 2015; 27(2):604-14. PMC: 4731111. DOI: 10.1681/ASN.2014101025. View

18.

Servais A, Thomas K, Dello Strologo L, Sayer J, Bekri S, Bertholet-Thomas A . Cystinuria: clinical practice recommendation. Kidney Int. 2020; 99(1):48-58. DOI: 10.1016/j.kint.2020.06.035. View

19.

Tostivint I, Royer N, Nicolas M, Bourillon A, Czerkiewicz I, Becker P . Spectrum of mutations in cystinuria patients presenting with prenatal hyperechoic colon. Clin Genet. 2017; 92(6):632-638. DOI: 10.1111/cge.13079. View

20.

Bergmann C . ARPKD and early manifestations of ADPKD: the original polycystic kidney disease and phenocopies. Pediatr Nephrol. 2014; 30(1):15-30. PMC: 4240914. DOI: 10.1007/s00467-013-2706-2. View