BACKGROUND: There are numerous causes of bilateral hyperechoic kidneys. Congenital disorders of glycosylation (CDGs) are a rapidly growing family of inherited disorders due to defects in the synthesis of the glycans of glycoproteins or other glycoconjugates. OBJECTIVE: To describe renal sonographic abnormalities in CDG type I in infants and children. MATERIAL AND METHODS: A retrospective study of renal US in 12 infants and children: 8 CDG-Ia (6 multivisceral forms, 2 neurological forms), 2 CDG-Ib, and 2 CDG-Ix, with detailed functional renal tests in 6. Histology of the kidneys of one 35-week fetus with CDG-Ia was available. RESULTS: Renal US was normal in the two children with the neurological form of CDG-Ia. All patients with the multivisceral form of CDG-Ia or with CDG-Ib showed increased cortical echogenicity, and/or abnormal pyramids (small +/- hyperechoic). The two patients with CDG-Ix showed predominant involvement of the medulla, with inverted corticomedullary differentiation in one. Kidney size was normal in all but two patients. The fetal kidneys exhibited diffuse microcysts arising from the distal tubules. CONCLUSIONS: Hyperechoic kidneys are common in CDG-I patients, contrasting with grossly preserved renal function. The US pattern seems to differ slightly according to the type of CDG-I, and is consistent with microcystic changes of the renal parenchyma, which occur prenatally, and may be due to ciliary dysfunction secondary to altered glycosylation of tubular glycoproteins. CDG-I, which remains largely underdiagnosed at present, should be added to the causes of hyperechoic kidneys in children, especially in cases of multivisceral involvement, after ruling out other more frequent causes.
BACKGROUND: There are numerous causes of bilateral hyperechoic kidneys. Congenital disorders of glycosylation (CDGs) are a rapidly growing family of inherited disorders due to defects in the synthesis of the glycans of glycoproteins or other glycoconjugates. OBJECTIVE: To describe renal sonographic abnormalities in CDG type I in infants and children. MATERIAL AND METHODS: A retrospective study of renal US in 12 infants and children: 8 CDG-Ia (6 multivisceral forms, 2 neurological forms), 2 CDG-Ib, and 2 CDG-Ix, with detailed functional renal tests in 6. Histology of the kidneys of one 35-week fetus with CDG-Ia was available. RESULTS: Renal US was normal in the two children with the neurological form of CDG-Ia. All patients with the multivisceral form of CDG-Ia or with CDG-Ib showed increased cortical echogenicity, and/or abnormal pyramids (small +/- hyperechoic). The two patients with CDG-Ix showed predominant involvement of the medulla, with inverted corticomedullary differentiation in one. Kidney size was normal in all but two patients. The fetal kidneys exhibited diffuse microcysts arising from the distal tubules. CONCLUSIONS:Hyperechoic kidneys are common in CDG-Ipatients, contrasting with grossly preserved renal function. The US pattern seems to differ slightly according to the type of CDG-I, and is consistent with microcystic changes of the renal parenchyma, which occur prenatally, and may be due to ciliary dysfunction secondary to altered glycosylation of tubular glycoproteins. CDG-I, which remains largely underdiagnosed at present, should be added to the causes of hyperechoic kidneys in children, especially in cases of multivisceral involvement, after ruling out other more frequent causes.
Authors: G Matthijs; E Schollen; C Bjursell; A Erlandson; H Freeze; F Imtiaz; S Kjaergaard; T Martinsson; M Schwartz; N Seta; S Vuillaumier-Barrot; V Westphal; B Winchester Journal: Hum Mutat Date: 2000-11 Impact factor: 4.878
Authors: P de Lonlay; N Seta; S Barrot; B Chabrol; V Drouin; B M Gabriel; H Journel; M Kretz; J Laurent; M Le Merrer; A Leroy; D Pedespan; P Sarda; N Villeneuve; J Schmitz; E van Schaftingen; G Matthijs; J Jaeken; C Korner; A Munnich; J M Saudubray; V Cormier-Daire Journal: J Med Genet Date: 2001-01 Impact factor: 6.318
Authors: E Schollen; L Dorland; T J de Koning; O P Van Diggelen; J G Huijmans; T Marquardt; D Babovic-Vuksanovic; M Patterson; F Imtiaz; B Winchester; M Adamowicz; E Pronicka; H Freeze; G Matthijs Journal: Hum Mutat Date: 2000-09 Impact factor: 4.878
Authors: Oscar Rubio Cabezas; Sarah E Flanagan; Horia Stanescu; Elena García-Martínez; Richard Caswell; Hana Lango-Allen; Montserrat Antón-Gamero; Jesús Argente; Anna-Marie Bussell; Andre Brandli; Chris Cheshire; Elizabeth Crowne; Simona Dumitriu; Robert Drynda; Julian P Hamilton-Shield; Wesley Hayes; Alexis Hofherr; Daniela Iancu; Naomi Issler; Craig Jefferies; Peter Jones; Matthew Johnson; Anne Kesselheim; Enriko Klootwijk; Michael Koettgen; Wendy Lewis; José María Martos; Monika Mozere; Jill Norman; Vaksha Patel; Andrew Parrish; Celia Pérez-Cerdá; Jesús Pozo; Sofia A Rahman; Neil Sebire; Mehmet Tekman; Peter D Turnpenny; William Van't Hoff; Daan H H M Viering; Michael N Weedon; Patricia Wilson; Lisa Guay-Woodford; Robert Kleta; Khalid Hussain; Sian Ellard; Detlef Bockenhauer Journal: J Am Soc Nephrol Date: 2017-04-03 Impact factor: 10.121