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Nephronophthisis: a genetically diverse ciliopathy.

Simms RJ, Hynes AM, Eley L, Sayer JA - Int J Nephrol (2011)

Bottom Line: The most frequent extrarenal association is retinal degeneration, leading to blindness.Increasingly, molecular genetic testing is being utilised to diagnose NPHP and avoid the need for a renal biopsy.We suggest an appropriate clinical management plan and screening programme for individuals with NPHP and their families.

View Article: PubMed Central - PubMed

Affiliation: Institute of Human Genetics, International Centre for Life, Newcastle University, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK.

ABSTRACT
Nephronophthisis (NPHP) is an autosomal recessive cystic kidney disease and a leading genetic cause of established renal failure (ERF) in children and young adults. Early presenting symptoms in children with NPHP include polyuria, nocturia, or secondary enuresis, pointing to a urinary concentrating defect. Renal ultrasound typically shows normal kidney size with increased echogenicity and corticomedullary cysts. Importantly, NPHP is associated with extra renal manifestations in 10-15% of patients. The most frequent extrarenal association is retinal degeneration, leading to blindness. Increasingly, molecular genetic testing is being utilised to diagnose NPHP and avoid the need for a renal biopsy. In this paper, we discuss the latest understanding in the molecular and cellular pathogenesis of NPHP. We suggest an appropriate clinical management plan and screening programme for individuals with NPHP and their families.

No MeSH data available.


Related in: MedlinePlus

Diagnostic algorithm for suspected cases of NPHP. ARPKD: autosomal recessive polycystic kidney disease; BBS: Bardet-Biedl syndrome; CKD: chronic kidney disease; Coag: coagulation; ERF: established renal failure; FBC: full blood count; JS: Joubert syndrome; LFT: liver function tests; Mg: magnesium; MRI: magnetic resonance imaging; NPHP: nephronophthisis; RRT: renal replacement therapy; UE: urea and electrolytes.
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fig1: Diagnostic algorithm for suspected cases of NPHP. ARPKD: autosomal recessive polycystic kidney disease; BBS: Bardet-Biedl syndrome; CKD: chronic kidney disease; Coag: coagulation; ERF: established renal failure; FBC: full blood count; JS: Joubert syndrome; LFT: liver function tests; Mg: magnesium; MRI: magnetic resonance imaging; NPHP: nephronophthisis; RRT: renal replacement therapy; UE: urea and electrolytes.

Mentions: In order to establish a clinical diagnosis of NPHP, a detailed history, clinical examination, including looking for extrarenal associations (abnormal eye movements, retinopathy, ataxia, polydactyly, and cardiac malformations) is required. A detailed family history must be taken both to facilitate diagnosis and to highlight other individuals who should be invited for review. Appropriate investigations include renal and liver function tests; urine concentration ability, renal and hepatic ultrasound, cerebral imaging if clinically indicated, and referral to an ophthalmologist (Figure 1) [16]. After genetic counselling, blood may be sent for genetic testing (Table 2) to genetic testing organisations (e.g., http://www.ukgtn.nhs.uk/ or http://www.eurogentest.org/) to seek a molecular diagnosis. Regular review is required to appropriately manage CKD/ERF, and individuals with extrarenal manifestations should be referred to appropriate colleagues and are ideally best managed in specialist clinics.


Nephronophthisis: a genetically diverse ciliopathy.

Simms RJ, Hynes AM, Eley L, Sayer JA - Int J Nephrol (2011)

Diagnostic algorithm for suspected cases of NPHP. ARPKD: autosomal recessive polycystic kidney disease; BBS: Bardet-Biedl syndrome; CKD: chronic kidney disease; Coag: coagulation; ERF: established renal failure; FBC: full blood count; JS: Joubert syndrome; LFT: liver function tests; Mg: magnesium; MRI: magnetic resonance imaging; NPHP: nephronophthisis; RRT: renal replacement therapy; UE: urea and electrolytes.
© Copyright Policy - open-access
Related In: Results  -  Collection

Show All Figures
getmorefigures.php?uid=PMC3108105&req=5

fig1: Diagnostic algorithm for suspected cases of NPHP. ARPKD: autosomal recessive polycystic kidney disease; BBS: Bardet-Biedl syndrome; CKD: chronic kidney disease; Coag: coagulation; ERF: established renal failure; FBC: full blood count; JS: Joubert syndrome; LFT: liver function tests; Mg: magnesium; MRI: magnetic resonance imaging; NPHP: nephronophthisis; RRT: renal replacement therapy; UE: urea and electrolytes.
Mentions: In order to establish a clinical diagnosis of NPHP, a detailed history, clinical examination, including looking for extrarenal associations (abnormal eye movements, retinopathy, ataxia, polydactyly, and cardiac malformations) is required. A detailed family history must be taken both to facilitate diagnosis and to highlight other individuals who should be invited for review. Appropriate investigations include renal and liver function tests; urine concentration ability, renal and hepatic ultrasound, cerebral imaging if clinically indicated, and referral to an ophthalmologist (Figure 1) [16]. After genetic counselling, blood may be sent for genetic testing (Table 2) to genetic testing organisations (e.g., http://www.ukgtn.nhs.uk/ or http://www.eurogentest.org/) to seek a molecular diagnosis. Regular review is required to appropriately manage CKD/ERF, and individuals with extrarenal manifestations should be referred to appropriate colleagues and are ideally best managed in specialist clinics.

Bottom Line: The most frequent extrarenal association is retinal degeneration, leading to blindness.Increasingly, molecular genetic testing is being utilised to diagnose NPHP and avoid the need for a renal biopsy.We suggest an appropriate clinical management plan and screening programme for individuals with NPHP and their families.

View Article: PubMed Central - PubMed

Affiliation: Institute of Human Genetics, International Centre for Life, Newcastle University, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK.

ABSTRACT
Nephronophthisis (NPHP) is an autosomal recessive cystic kidney disease and a leading genetic cause of established renal failure (ERF) in children and young adults. Early presenting symptoms in children with NPHP include polyuria, nocturia, or secondary enuresis, pointing to a urinary concentrating defect. Renal ultrasound typically shows normal kidney size with increased echogenicity and corticomedullary cysts. Importantly, NPHP is associated with extra renal manifestations in 10-15% of patients. The most frequent extrarenal association is retinal degeneration, leading to blindness. Increasingly, molecular genetic testing is being utilised to diagnose NPHP and avoid the need for a renal biopsy. In this paper, we discuss the latest understanding in the molecular and cellular pathogenesis of NPHP. We suggest an appropriate clinical management plan and screening programme for individuals with NPHP and their families.

No MeSH data available.


Related in: MedlinePlus