Parents Diagnosed with Hereditary Nephropathy by the Paediatric Nephrologist - European Medical Journal

Parents Diagnosed with Hereditary Nephropathy by the Paediatric Nephrologist

2 Mins
*Víctor Martínez Jiménez,1 Juan A. Piñero Fernández,2 Carmen Vicente Calderón,2 Carlota García Arnedo,1 Andrés Alonso García,1 Inmaculada López Jiménez1

The authors have declared no conflicts of interest.

EMJ Nephrol. ;6[1]:53-54. Abstract Review No. AR8.
Chronic kidney disease, hereditary nephropathy, paediatric nephrology

Each article is made available under the terms of the Creative Commons Attribution-Non Commercial 4.0 License.


Hereditary nephropathies should be suspected in adults with a family history of chronic renal alterations,1 and children should be screened, particularly in autosomal-dominant diseases.2 However, there are cases of hereditary nephropathies that manifest in childhood (linked to the X chromosome and atypical cases), and from the correct aetiology these cases could be identified in some adults with an erroneous or unknown diagnosis of chronic kidney disease. It could even be possible to discover patients who should be followed up with nephrology consultations.3


The objectives of this study were to analyse patients referred to the nephrology department with hereditary nephropathies diagnosed based on their children in the paediatric nephrology department, and to determine the correct diagnosis of patients with chronic kidney disease not previously identified.


Paediatric patients in a paediatric nephrology clinic were diagnosed by neonatal screening for cystinuria4 or by a positive genetic study of another aetiology. Adult patients with hereditary nephropathy were then identified following the screening of their children.5 Variables in the study included the age and sex of children and adults with chronic kidney disease, aetiology of the hereditary nephropathy, genetic study, and clinical profile (blood, urine, and renal ultrasound).


The study included 68 children (65% males) aged 0–7 years at diagnosis; 14 were diagnosed following a positive genetic study. After the screening of the paediatric patients, 76 adults (58% males) were identified, with 8 shown to have previously been in follow-up due to undiagnosed chronic kidney disease.

Two different groups were identified: those diagnosed by neonatal screening (62 cystinurias) and those diagnosed via genetic study of their children (1 case of Alport syndrome,6 3 cases of hepatocyte nuclear factor 1β-associated kidney disease,7 1 case of Barakat syndrome, 1 case of autosomal dominant polycystic kidney disease,8 6 cases of Dent disease,9 1 case of PAX2-related disorder, and 1 case of hypophosphataemic rickets linked to the X chromosome [hl]Figure 1[/hl]).

Figure 1: Number of adult patients diagnosed with hereditary nephropathy (not cystinuria) via genetic study.


The consultation of paediatric nephrology provides a step towards the improvement of the diagnosis of hereditary nephropathy, especially in cases of undiagnosed chronic kidney disease. As nephrologists, we should suspect these diseases upon the first examination of adult patients.10

Ars E et al.; Spanish Working Group of Inherited Kidney Disease. Spanish guidelines for the management of autosomal dominant polycystic kidney disease. Nephrol Dial Transplant. 2014;29(Suppl4):95-105. Mehta L, Jim B. Hereditary renal diseases. Semin Nephrol. 2017;37(4):354-61. Zhang Y, Ding J. Renal, auricular, and ocular outcomes of Alport Syndrome and their current management. Pediatr Nephrol. 2017:1-8. [Epub ahead of print]. Pereira DJ et al. Cystinuria: Current concepts and future directions. Clin Nephrol. 2015;83(3):138-46. Köttgen A et al. Multiple loci associated with indices of renal function and chronic kidney disease. Nat Genet. 2009;41:712-7. Tazón-Vega B et al. Genetic testing for X-linked Alport syndrome by direct sequencing of COL4A5 cDNA from hair root RNA samples. Am J Kidney Dis. 2007;50(2):257.e1-14. Eckardt KU. et al. Autosomal dominant tubulointerstitial kidney disease: Diagnosis, classification, and management-A KDIGO consensus report. Kidney Int. 2015;88(4):676-83. Cornec-Le Gall E et al. Type of PKD1 mutation influences renal outcome in ADPKD. J Am Soc Nephrol. 2013;24(6):1006-13. Edvardsson VO et al. Hereditary causes of kidney stones and chronic kidney disease. Pediatr Nephrol. 2013;28(10):1923-42. Martínez V et al. [Utilidad de una consulta de enfermedades renales hereditarias: Un enfoque diferente basado en el árbol genealógico]. Nefrología (Madrid). 2016;36(3):217-21. (In Spanish).

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