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  1. Nephrology

Genetic testing for nephrological and endocrinological indications

CENTOGENE provides genetic testing and consultation for the most efficient diagnosis of inherited liver, kidney and endocrinological diseases.


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Symptoms related to a genetic cause

Approximately 10% of the population worldwide is affected by chronic kidney diseases1,2,3,4. There are various kidney diseases, ranging from relatively common to rare disorders, and from benign disorders to those with a high morbidity and mortality rate. Presentation may include abdominal/loin pain, urinary tract infections, hematuria, enlargement of one or more cysts, failure to thrive, short stature, hypertension or renal dysfunction.

Advances in genetic techniques are providing many important insights into kidney disease diagnosis, classification, pathogenesis and therapy.

Congenital anomalies of the kidney and urinary tract anatomy represent approximately 30% of all prenatal diagnosed malformations5,6. Many congenital kidney diseases are due to single gene defects, such as steroid-resistant nephrotic syndrome, which is caused by podocin (NPHS2) mutations, polycystic kidney disease caused by mutation in either PKD1 or PKD2 and others such as Alport syndrome, Bartter syndrome and nephronophthisis. In addition, there are numerous syndromes that cause kidney problems such as tuberous sclerosis, a genetic disorder that causes tumors to form in many different organs, most commonly in the brain, eyes, heart, kidney, skin and lungs.

Referral reasons

  • Individuals presenting with the most common symptoms of a kidney disease
  • Individuals with a positive family history of kidney disease
  • Individuals without a positive family history but with symptoms resembling the specific disease indication
  • Individuals with a negative, but suspected, family history, in order to perform genetic counseling (prenatal analyses are recommended in families of affected individuals)


Diagnostic strategy

Confirmation of a clinical diagnosis through genetic testing allows for genetic counseling and may lead to immediate medical management. For each presented case and phenotype, a full medical report will be produced including a tailored diagnostic strategy, recommendations and a differential diagnosis, if applicable.

Clinical symptoms are not always the product of the same gene or genetic variation; any diagnosis is determined as a combination of the in-depth clinical information provided and the identified genetic cause.

What do we know about kidney diseases?

Three of the most prominent kidney disorders diagnosed are polycystic kidney disease, Alport syndrome and cystinosis. Polycystic kidney disease (PKD) is one of the most common life-threatening genetic disorders. Autosomal dominant polycystic kidney disease (ADPKD) is one of the most common human monogenic diseases with an estimated incidence of 1:500 to 1:1,000 7,8. Although ADPKD is often considered to be a disease of adults, it is clear that the disease begins in childhood. Renal cysts in children with ADPKD have been associated with wide clinical spectra, ranging from totally asymptomatic patients to those who present as newborns with massive renal enlargement, hypertension, oliguria and pulmonary hypoplasia 8. Autosomal recessive PKD (ARPKD) occurs in an estimated 1:30,000 people9. The majority of individuals with ARPKD present in the neonatal period with enlarged echogenic kidneys. More than 50% of affected individuals with ARPKD progress to end-stage renal disease within the first decade of life9.

Cystinosis is associated with the accumulation of cystine inside the lysosomes of various tissues and organs. The disease is caused by mutations in the CTNS gene10 and follows an autosomal recessive mode of inheritance. There are three forms of cystinosis: infantile, juvenile and ocular. In the infantile form, the disease progresses to result in renal failure around the age of 6. In the juvenile form, end-stage renal disease typically occurs after the age of 15. The ocular form is often found in adults, who show corneal tears and photophobia, but are otherwise asymptomatic. Early detection of the disease can significantly improve prognosis.

Latest Scientific Articles on Nephrology

What can CENTOGENE do for you and your patients?

CENTOGENE is a global leader in the diagnosis of rare genetic diseases and has received multiple international accreditations (ISO, CAP and CLIA) that confirm the highest standards for diagnostic testing and reporting. Our experience, combined with our scientific expertise and medical competence, has allowed the application of state-of-the-art technologies and the development of a unique, multiethnic mutation database.

CENTOGENE has identified genetic variants associated with nephrological diseases in more than 240 different genes.

In CentoMD®, the world’s largest mutation database for rare diseases. With 57% of unpublished variants, we have carefully created and documented all variants that have clinical relevance for related symptoms supporting the precise diagnosis of a nephrological disease.

We have identified >800 mutations in samples from almost 700 PKD-affected patients, and of these more than half (65%) were diagnosed with PKD1, while PKD2 was identified in 12% and autosomal recessive PKD in 23%. Also, more than half of these PKD-associated mutations (51%) were for the first time identified at CENTOGENE (CentoMD®).

Downloads for Nephrology


Clinical findings and genetic background of the most prevalent hereditary nephrology diseases

Disease Gene/Genes Clinical findings Prevalence and epidemiology Onset
Bartter syndrome SLC12A7, SLC12A5, SLC12A3 Polyhydramnios, premature delivery, polyuria, dehydration, hypercalciuria and vascular abnormalities 1/1000,000 in Europe From prenatal to adult onset

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References:
  1. Coresh J, Selvin E, Stevens LA, Manzi  J, Kusek  JW, Eggers P, Van Lente F, Levey AS. Prevalence of chronic kidney disease in the United States. JAMA, 298 (2007), pp. 2038–2047.
  2. Imai E , Horio M, Watanabe T, Iseki K, Yamagata K, Hara S, Ura N, Kiyohara Y, Moriyama T, Ando Y, Fujimoto S, Konta T, Yokoyama H, Makino H, Hishida A, et al. Prevalence of chronic kidney disease in the Japanese general population. Clin Exp Nephrol, 13 (2009), pp. 621–630. 
  3. Stevens PE, O’Donoghue DJ, de Lusignan S, Van Vlymen J, Klebe B, Middleton R, Hague N, New J, Farmer CK. Chronic kidney disease management in the United Kingdom: NEOERICA project results. Kidney Int, 72 (2007), pp. 92–99.
  4. Chadban SJ, Briganti EM, Kerr PG, Dunstan DW, Welborn TA, Zimmet PZ, Atkins RC. Prevalence of kidney damage in Australian adults: the AusDiab kidney study. J Am soc Nephrol, 14 (Suppl. 2) (2003), pp. S131–S138.
  5. Schedl A (2007). Renal abnormalities and their developmental origin. Nature Reviews Genetics, 8(10), 791-802.
  6. Toka HR, Toka O, Hariri A, Nguyen HT (2010, July). Congenital anomalies of kidney and urinary tract. In Seminars in nephrology (Vol. 30, No. 4, pp. 374-386). WB Saunders.
  7. Abdollah Shamshirsaz A, Reza Bekheirnia M, Kamgar M, Johnson AM, McFann K, Cadnapaphornchai M, Nobakhthaghighi N, Schrier RW (2005). Autosomal-dominant polycystic kidney disease in infancy and childhood: progression and outcome. Kidney Int., 68, 2218-2224.
  8. MacDermot KD, Saggar-Malik AK, Economides DL, Jeffery S (1998). Prenatal diagnosis of autosomal dominant polycystic kidney disease (PKD1) presenting in utero and prognosis for very early onset disease. J. Med. Genet., 35, 13-16.
  9. Sweeney William E, Avner Ellis D. "Polycystic kidney disease, autosomal recessive." (2014).
  10. Whitmore SA, Callen DF, Gribouvalo O, Broyer M, & Bates GP (1998). A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis. Nature genetics, 18, 319.

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