Nephronophthisis

Bh, Brouhard; Rn, Srivastava; Lb, Travis; Mi, Kay; Ga, Beathard; Wf, Dodge; Wb, Lorentz

doi:10.1159/000180872

Cited by 14 publications

(2 citation statements)

References 15 publications

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“…Nephronophthisis is classically associated with polydipsia and polyuria and hyposthenuria has been described in some cases [13,14]. Another case was described from suffering from NDI, but the data presented in the paper show a maximum urine osmolality of 434 mosm/kg, virtually excluding true aquaoprin deficiency [15].…”

Section: Discussionmentioning

confidence: 99%

Secondary Nephrogenic Diabetes Insipidus as a Complication of Inherited Renal Diseases

et al. 2010

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Background/Aims: Nephrogenic diabetes insipidus (NDI) is a serious condition with large water losses in the urine and the risk of hypernatremic dehydration. Unrecognized, repeated episodes of hypernatremic dehydration can lead to permanent brain damage. Primary NDI is due to mutations in either AVPR2 or AQP2. NDI can also occur as a secondary complication, most commonly from obstructive uropathy or chronic lithium therapy. We observed NDI in patients with inherited tubulopathies and aimed to define the clinical and molecular phenotype. Methods: We reviewed the medical notes of 4 patients with clinical NDI and an underlying molecularly confirmed diagnosis of nephropathic cystinosis, Bartter syndrome, nephronophthisis and apparent mineralocorticoid excess, respectively. Results: The patients all failed to concentrate their urine after administration of 1-desamino[8-D-arginine] vasopressin. None had an identifiable mutation in AVPR2 or AQP2, consistent with secondary NDI. Patients experienced repeated episodes of hypernatremic dehydration, and in 2 cases, NDI was initially thought to be the primary diagnosis, delaying recognition of the underlying problem. Conclusion: The recognition of this potential complication is important as it has direct implications for clinical management. The occurrence of NDI in association with these conditions provides clues for the etiology of aquaporin deficiency.

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Section: Discussionmentioning

confidence: 99%

Secondary Nephrogenic Diabetes Insipidus as a Complication of Inherited Renal Diseases

et al. 2010

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“…An intermediate restriction of urinary concentration ability has been demonstrated in the parents and some siblings of children with NPH, suggesting that this defect reflects the heterozygous state of the disease [6,20,28]. Therefore, a 12-or 16-h water deprivation test as well as the vasopressin test can be used to demonstrate a urinary concentration defect which occurs early in the course of the disease.…”

Section: Diagnosismentioning

confidence: 99%

The nephronophthisis complex: clinical and genetic aspects

et al. 1992

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Familial juvenile nephronophthisis (NPH) and medullary cystic disease (MCD) are hereditary forms of early-onset chronic renal failure caused by the bilateral formation of cysts at the corticomedullary junction of the kidney. Polyuria, polydipsia, anemia, and growth retardation precede end-stage renal failure. The absence of edema and hypertension frequently leads to a delay in the diagnosis and commencement of therapy. The condition is a major cause of end-stage renal disease (ESRD) in children, accounting for 10%-25% of these patients. About 300 cases of NPH or MCD have been described. Although they are almost indistinguishable clinically and pathologically, the two conditions are separated by a characteristic age of onset (11.5 years in NPH vs. 28.5 years in MCD) and by the mode of inheritance (autosomal recessive in NPH vs. autosomal dominant in MCD). An association of NPH with retinitis pigmentosa is known as the Senior-Løken syndrome (SLS). Hepatic fibrosis, skeletal defects, and central nervous system abnormalities have been described in association with NPH but are typically absent in MCD. Since the pathology of NPH and MCD is similar, the term "nephronophthisis complex" has been introduced to summarize the related diseases. At present, there are no means of identifying heterozygotes, conducting prenatal diagnosis, or screening children in affected families. The histologic changes of NPH are characteristic but not specific for the disease. Cysts of 1-15 mm in diameter, located primarily at the corticomedullary junction, are seen in 70% of the patients. Light microscopy reveals a chronic sclerosing tubulo-interstitial nephropathy.(ABSTRACT TRUNCATED AT 250 WORDS)

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The Inheritance of Nephronophthisis

Kleinknecht¹

1990

Inheritance of Kidney and Urinary Tract Diseases

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Nephronophthisis

Cited by 14 publications

References 15 publications

Secondary Nephrogenic Diabetes Insipidus as a Complication of Inherited Renal Diseases

Secondary Nephrogenic Diabetes Insipidus as a Complication of Inherited Renal Diseases

The nephronophthisis complex: clinical and genetic aspects

The Inheritance of Nephronophthisis

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