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Nephronophthisis 1


Presentation

  • Two patients presented the complete features of JSRD with cerebello-renal-retinal association and MTS.[ncbi.nlm.nih.gov]
Failure to Thrive
  • In this report we present three babies in whom failure to thrive, dehydration and a renal concentrating defect presented soon after birth; they were subsequently investigated for renal failure during the first year of life.[ncbi.nlm.nih.gov]
  • The first signs appear after the age of 2 with a urine concentration defect responsible for polyuria and polydipsia, failure to thrive and a progressive deterioration of renal function without signs of glomerular disease.[orpha.net]
  • Common findings include a failure to thrive and weakness. Anorexia, nausea, pruritus, bone pain, and neurologic symptoms herald ESRD. Because of salt wasting, hypertension is rare, except in the infantile form of nephronophthisis.[emedicine.medscape.com]
  • Additional symptoms such as growth retardation, failure to thrive or persisting enuresis can indicate NPH but are not mandatory findings. There are no characteristic abnormalities in urine analysis.[neocyst.de]
Macula
  • With time, the pigmentary abnormality is more evident, until it becomes a full-blown pigmentary retinopathy.6,7,13 Pathologic findings in the literature include an irregular pattern and sometimes a total absence of intact photoreceptors in the macula[healio.com]
Retinal Lesion
  • Additional lesions and other abnormalities, including retinal lesions, mental retardation, cerebellar and osseous abnormalities, have been reported in some patients.[ncbi.nlm.nih.gov]
Enophthalmos
  • Ocular examination revealed enophthalmos OU, poor light perception, intraocular pressure of 15 mmHg, sluggish direct and consensual pupillary responses, photophobia, and pendular nystagmus.[healio.com]
Cerebellar Ataxia
  • We report on an 11-year-old boy with familial juvenile nephronophthisis type I associated with cerebellar ataxia and nystagmus, but not with ocular motor apraxia.[ncbi.nlm.nih.gov]
  • ataxia, oculomotor apraxia, psychomotor delay and neonatal breathing abnormalities, sometimes including retinal dystrophy and renal disease.[novusbio.com]
Tremor
  • Two others showed, instead, severe intentional tremor and thick superior cerebellar peduncles on brain magnetic resonance imaging (MRI), and one of them had associated retinopathy.[ncbi.nlm.nih.gov]
Pendular Nystagmus
  • Ocular examination revealed enophthalmos OU, poor light perception, intraocular pressure of 15 mmHg, sluggish direct and consensual pupillary responses, photophobia, and pendular nystagmus.[healio.com]
Polyuria
  • AIMS: Nephronophthisis (NPHP) is an autosomal recessive cystic disease of the kidney with main characteristic features of polyuria/polydipsia, mild or absent proteinuria, interstitial fibrosis, and tubular cysts.[ncbi.nlm.nih.gov]
  • Therapy with potassium chloride resulted in reduction of polyuria, increased rate of growth, and arrest of progression of renal insufficiency.[pediatrics.aappublications.org]
  • Familial juvenile nephronophthisis (FJN): A childhood genetic kidney disease in which there is progressive symmetrical destruction of the kidneys involving both the tubules and glomeruli, characteristically resulting in anemia, polyuria, polydipsia, isosthenuria[medicinenet.com]
  • Patients exhibit with polyuria, polydipsia, anemia and growth retardation.[athenadiagnostics.com]
Kidney Failure
  • Failure, Chronic/diagnosis Kidney Failure, Chronic/genetics Mice Mice, Knockout Mitosis Mutation NIH 3T3 Cells Nerve Tissue Proteins/genetics Nerve Tissue Proteins/metabolism Pedigree Phenotype Signal Transduction Spindle Poles/metabolism Young Adult[ncbi.nlm.nih.gov]
  • The chronic kidney failure affects growth and leads to short stature. The age at death ranges from around 4 to 15 years. The disease is also called nephronophthisis 1 (NPH1) and autosomal recessive medullary cystic kidney disease.[medicinenet.com]
  • The disorder is inherited in an autosomal recessive fashion and, although rare, is the most common genetic cause of childhood kidney failure. It is a form of ciliopathy.[en.wikipedia.org]

Workup

  • Genetic analysis is highly indicated in order to identify causative mutations, assist with further syndromatic workup and help with prognosis.[renalandurologynews.com]
Ketonuria
  • There was normal urinalysis, no hematuria, no glycosuria, no ketonuria, normal excretion of protein in 24-hour urine specimen, low urinary specific gravity, and normal urine cultures.[healio.com]
Microcytic Anemia
  • Laboratory Findings Hemogram showed a moderate hypochromic, microcytic anemia, and eosinophilia (reverted to normal after treatment of ascaris and Trichuris trichiura).[healio.com]

Treatment

  • الصفحة 935 - In utero surgical treatment of fetal obstructive uropathy: a new comprehensive approach to identify appropriate candidates for vesicoamniotic shunt therapy. Am J Obstet Gynecol 170: 1770-6. ‏[books.google.com]
  • The treatment reduced cyst enlargement, and the early treatment inhibited development of renal fibrosis. Although the effect of later treatment was more modest, both stages of the disease responded positively to treatment.[ncbi.nlm.nih.gov]

Prognosis

  • Treat associated renal failure - usually haemodialysis followed by renal transplantation (the illness does not recur in the transplanted kidney). [ 1, 2 ] Prognosis Most children will develop renal failure by mean age of 13 years.[patient.info]
  • (Outcomes/Resolutions) The prognosis of Adolescent Nephronophthisis is typically guarded.[dovemed.com]
  • Thorough review of the clinical phenotypes, their presentations, treatment, potential complications of, and prognosis is discussed.[books.google.com]
  • Therefore NPH counts among the group of ciliopathies progress and prognosis Depending on the form of NPH progress of chronic renal failure.[neocyst.de]

Etiology

  • In this review, we discuss the identified causative mutations that give rise to nephronophthisis and how these are related to the disease etiology in both the kidney and other organs.[ncbi.nlm.nih.gov]
  • Chapter 41 Laparoscopic management of duplication anomalies 649 anatomic and functional basis of etiology 655 Chapter 43 Nonsurgical management of vesicoureteral reflux 663 Chapter 44 Surgery for vesicoureteral reflux 673 Chapter 45 Minimally invasive[books.google.com]

Epidemiology

  • […] recessive and patients develop end-stage renal failure (ESRF) by adolescence. [ 1, 2 ] The protein products, named nephrocystins, which become abnormal in this disorder, have primarily a function in cilial structures (making it a ' ciliopathy '). [ 3 ] Epidemiology[patient.info]
  • Epidemiology: 10% of children with end-stage renal disease are suffering from nephronophthisis Nephronophthisis is the most common form of inherited renal failure before the age of 30 years.[urology-textbook.com]
  • Summary Epidemiology Prevalence is 1/100 000 individuals. Clinical description The disease is both clinically and genetically heterogeneous. Three main clinical forms have been described.[orpha.net]
  • […] general Group of autosomal recessive disorders characterized by corticomedullary cysts, atrophy and interstitial fibrosis "Phthisis" (Greek): dwindling or wasting away Also referred to as juvenile nephronophthisis medullary cystic kidney disease complex Epidemiology[pathologyoutlines.com]
Sex distribution
Age distribution

Pathophysiology

  • Recently, molecular genetic advances have identified several genes mutated in NPHP, providing novel insights into its pathophysiology for the first time in decades.[ncbi.nlm.nih.gov]
  • Fibrocystic Diseases of the Liver will be an invaluable resource for hepatologists, gastroenterologists, nephrologists, and hepatic surgeons who care for children and adults with liver disease, as well as basic scientists in molecular genetics, hepatobiliary pathophysiology[books.google.com]
  • All diseases mentioned above ground on the same pathophysiological mechanism: the genes causing renal cysts encode for proteins in the primary cilium, a cellular antennae like organelle projecting from the cell surface of most cells.[neocyst.de]
  • The role of the vitamin K-dependent growth factor Gas6 in glomerular pathophysiology. Curr Opin Nephrol Hypertens. 13: 465-70, 2004.[kyoto-u-cardio.jp]

Prevention

  • How to use an article about therapy or prevention. B. What were the results and will they help me in caring for my patients? Evidence-Based Medicine Working Group. JAMA 1994;271:59-63. 79.[books.google.com]
  • Thus, we identify Glis2 as a transcription factor mutated in NPHP and demonstrate its essential role for the maintenance of renal tissue architecture through prevention of apoptosis and fibrosis.[ncbi.nlm.nih.gov]
  • "Mutations in NPHP genes prevent cilia from functioning properly, causing damage that leads to kidney disease." These important sensors aren't confined to the kidneys, however.[sciencedaily.com]
  • Currently, there are no specific methods or guidelines to prevent the Adolescent Nephronophthisis, since it is a genetic condition Genetic testing of the expecting parents (and related family members) and prenatal diagnosis (molecular testing of the fetus[dovemed.com]
  • The electrolyte loss prevents hypertension. End-stage renal disease occurs 5–10 years after onset of symptoms. Infantile nephronophthisis Infantile nephronophthisis leads to end-stage renal disease before the age of 5 years.[urology-textbook.com]

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