title: [Significance of the urine strip test in case of stunted growth].
abstract: Observation of stunted growth in children usually leads the general practitioner to refer the patient to endocrinologists or gastroenterologists. In most cases, after a complementary check-up, the diagnosis is made and treatment is initiated. However, certain cases remain undiagnosed, particularly renal etiologies, such as proximal tubulopathy. The urine strip test at the initial check-up would be an easy and inexpensive test to avoid delayed diagnosis. The aim of the present paper is to increase general physicians' and pediatricians' awareness of the significance of questioning the parents and using the urine strip test for any child presenting stunted growth. We report a patient case of a 20-month-old child admitted to the emergency department for severe dehydration. He had displayed stunted growth since the age of 5 months and showed a negative etiologic check-up at 9 months of age. Clinical examination at admission confirmed stunted growth with loss of 2 standard deviations and signs of dehydration with persistent diuresis. Skin paleness, ash-blond hair, and signs of rickets were also observed and the urine strip test showed positive pads for glycosuria and proteinuria. Polyuria and polydipsia were also revealed following parents' questioning, suggesting proximal tubulopathy (Fanconi syndrome). Association of stunted growth, rickets, polyuria and polydipsia, glycosuria (without ketonuria and normal glycemia), and proteinuria suggest nephropathic cystinosis. Ophthalmic examination showed cystine deposits in the cornea. The semiotic diagnosis of nephropathic cystinosis was confirmed by leukocyte cystine concentrations and genetic investigations. This case report clearly illustrates the significance of the urine strip test to easily and quickly concentrate the diagnosis of stunted growth on a renal etiology (glycosuria, proteinuria), especially on proximal tubulopathy for which the most frequent cause is nephropathic cystinosis. Specificity of nephropathic cystinosis treatment is that the age of treatment initiation is crucial and determinant for the prognosis of the disease and the onset of final stage renal failure. Therefore, the urine strip test should be included in the systematic check-up of stunted growth to identify any renal etiology.
authors.affiliation: Néphrogones, centre de référence des maladies rénales rares, hôpital Femme-Mère-Enfant, 59, boulevard Pinel, 69500 Bron, France. Electronic address: aurelia.bertholet-thomas@chu-lyon.fr.
authors.forename: A
authors.initials: A
authors.lastname: Bertholet-Thomas
authors.affiliation: Néphrologie pédiatrique, centre de référence du Sud-Ouest des maladies rénales rares (SORARE), hôpital des Enfants, CHU de Bordeaux, 33076 Bordeaux, France.
authors.forename: B
authors.initials: B
authors.lastname: Llanas
authors.affiliation: Service de néphrologie adulte, centre de référence MARRHEA, hôpital Necker-Enfants-Malades, université Paris Descartes, AP-HP, 75015 Paris, France.
authors.forename: A
authors.initials: A
authors.lastname: Servais
authors.affiliation: Endocrinologie, diabète et maladies héréditaires du métabolisme, hôpital Femme-Mère-Enfant, hôpitaux de Lyon, 69500 Lyon, France.
authors.forename: N
authors.initials: N
authors.lastname: Bendelac
authors.affiliation: Génétique médicale, hôpital Pellegrin, CHU de Bordeaux, 33076 Bordeaux, France.
authors.forename: C
authors.initials: C
authors.lastname: Goizet
authors.affiliation: Inserm UMR 1088, service de néphrologie-médecine interne-dialyse-transplantation-réanimation, université de Picardie-Jules-Verne, CHU d'Amiens, 80054 Amiens, France.
authors.forename: G
authors.initials: G
authors.lastname: Choukroun
authors.affiliation: Néphrologie pédiatrique, hôpital Jeanne-de-Flandre, CHRU de Lille, 59037 Lille cedex, France.
authors.forename: R
authors.initials: R
authors.lastname: Novo
authors.affiliation: Pédiatrie, néphrologie, médecine interne et hypertension pédiatrique, centre de référence du Sud-Ouest des maladies rénales rares (SORARE), hôpital des Enfants, CHU de Toulouse, 31300 Toulouse, France.
authors.forename: S
authors.initials: S
authors.lastname: Decramer
mesh_terms: D003554:Cystinosis / Q000150:complications / Q000175:diagnosis / Q000652:urine*; D006130:Growth Disorders / Q000209:etiology / Q000652:urine*; D006801:Humans; D007223:Infant; D008297:Male; D016482:Urinalysis / Q000379:methods