title: Respiratory chain deficiency presenting as congenital nephrotic syndrome.
abstract: Nephrotic syndrome (NS) in infancy includes NS of Finnish type (mutation of the nephrin gene), diffuse mesangial sclerosis (idiopathic or linked to WT1 mutation), idiopathic NS, most often steroid resistant, and NS related to infections during pregnancy (virus, syphilis, toxoplasmosis). Later in life, NS has a large variety of etiologies. It has been described in association with neuromuscular symptoms, deafness, and diabetes in a few children and adults with respiratory chain (RC) disorders. To date, however, NS has never been observed in neonates with RC disorders. Here, we report RC deficiency in one infant with certain congenital NS and two siblings with acute neonatal cardiac and renal disease with probable NS. Although clinical and histopathological presentations were initially close to congenital NS of Finnish type, clinical outcome was atypical and nephrin mutation was excluded. Mitochondrial RC complex II+V deficiency was identified in the three patients. Based on these observations, we suggest that RC disorders should be considered in patients with congenital NS.
authors.affiliation: Département de Génétique Médicale, Hôpital Necker-Enfants Malades, 149 rue de Sèvres, 75743 Paris Cedex 15, France.
authors.forename: Alice
authors.initials: A
authors.lastname: Goldenberg
authors.forename: Linh Huynh
authors.initials: LH
authors.lastname: Ngoc
authors.forename: Marie-Christine
authors.initials: MC
authors.lastname: Thouret
authors.forename: Valérie
authors.initials: V
authors.lastname: Cormier-Daire
authors.forename: Marie-France
authors.initials: MF
authors.lastname: Gagnadoux
authors.forename: Dominique
authors.initials: D
authors.lastname: Chrétien
authors.forename: Catherine
authors.initials: C
authors.lastname: Lefrançois
authors.forename: Vanna
authors.initials: V
authors.lastname: Geromel
authors.forename: Agnès
authors.initials: A
authors.lastname: Rötig
authors.forename: Pierre
authors.initials: P
authors.lastname: Rustin
authors.forename: Arnold
authors.initials: A
authors.lastname: Munnich
authors.forename: Véronique
authors.initials: V
authors.lastname: Paquis
authors.forename: Corinne
authors.initials: C
authors.lastname: Antignac
authors.forename: Marie-Claire
authors.initials: MC
authors.lastname: Gubler
authors.forename: Patrick
authors.initials: P
authors.lastname: Niaudet
authors.forename: Pascale
authors.initials: P
authors.lastname: de Lonlay
authors.forename: Etienne
authors.initials: E
authors.lastname: Bérard
mesh_terms: D001706:Biopsy; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007668:Kidney / Q000473:pathology; D008297:Male; D008565:Membrane Proteins; D028361:Mitochondrial Diseases / Q000175:diagnosis* / Q000378:metabolism; D009404:Nephrotic Syndrome / Q000151:congenital* / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D011506:Proteins / Q000235:genetics
chemical_list: D008565:Membrane Proteins; D011506:Proteins; C113267:nephrin