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]

Presentation History A family history of consanguinity, early death, or renal disease is present in 67% of patients with nephronophthisis (NPH). [emedicine.medscape.com]

• Anemia

  In contrast to other renal diseases in which the degree of anemia depends on the stage of renal insufficiency, in nephronophthisis, the severity of the anemia exceeds the degree of renal insufficiency. [emedicine.medscape.com]

  […] nephronophthisis [ nef″ron-of´thĭ-sis ] wasting disease of the kidney substance. familial juvenile nephronophthisis a progressive hereditary kidney disease marked by anemia, polyuria, renal loss of sodium, progressing to chronic renal failure, tubular [medical-dictionary.thefreedictionary.com]

  Diagnosis was made during the investigation of anemia in case 1 and by a subsequent family survey in case 2. Most patients with FJN are not identified until the terminal stage of renal failure and such cases have rarely been reported in Japan. [ncbi.nlm.nih.gov]

  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]

• Enuresis

  Early presenting symptoms in children with NPHP include polyuria, nocturia, or secondary enuresis, pointing to a urinary concentrating defect. [ncbi.nlm.nih.gov]

  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]

  Secondary enuresis. Renal impairment. Renal failure with metabolic acidosis, anaemia, renal osteodystrophy and end-stage renal failure (ESRF). Once uraemia occurs - patients may have nausea, anorexia and generalised lethargy. [patient.info]

  Whilst enlarged dysplastic cystic kidneys are associated with infantile NPHP, more typically renal ultrasound reveals normal kidney size and corticomedullary cysts in a child with polyuria and secondary enuresis. [oxfordmedicine.com]

  […] bladder disorders 739 Chapter 51 Urodynamics of the lower and upper urinary tract 747 Chapter 52 Neurologic control of storage and voiding 765 Chapter 53 Neurogenic voiding dysfunction and nonsurgical management 781 Chapter 54 Diurnal and nocturnal enuresis [books.google.com]

• Refractory Anemia

  A Case with Severe Refractory Anemia - Amer. J. Dis. Child. 107, 277, 1964. PubMed Google Scholar 16). Fairley K. F., Leighton P. [link.springer.com]

  Congenital medullary cysts of the kidneys with severe refractory anemia. Am J Dis Child. 1945; 69 :369–377. [ Google Scholar ] 11. Fanconi G, et al. Die familiäre juvenile Nephronophthise. [ncbi.nlm.nih.gov]

  Congenital medullary cystic disease of the kidney with severe refractory anemia. Am J Dis Child 1945; 69: 369-77. 5. Strauss MB. Clinical and pathological aspects of cystic disease of the renal medulla. Ann Intern 1952; 57: 373-381. 6. [sjkdt.org]

• Developmental Disorder

  Abstract Joubert syndrome (JS) is a rare developmental disorder of the central nervous system, characterised by brainstem and cerebellar malformations, hypotonia, episodic hyperapnea and apnea and mental retardation. [ncbi.nlm.nih.gov]

  Am J Hum Genet 79 : 556 –561, 2006 110a. ↵ Bisgrove BW, Yost HJ: The roles of cilia in developmental disorders and diseases. [doi.org]

• Epilepsy

  Two patients died of status epilepticus, and epilepsy is probably an added association of medullary cystic disease. [ncbi.nlm.nih.gov]

  Systemic findings such as psychomotor and mental retardation,3-5,13,14 epilepsy,3,13 microcephaly,15 impairment of hearing,4,12,14,16 and EhlersDanlos syndrome also have been described. [healio.com]

  Macrothrombocytopenia and progressive sensorineural deafness, May-Hegglin anomaly, Sebastian syndrome MYO1E Focal segmental glomerulosclerosis NPHS1 Nephrotic syndrome NPHS2 Nephrotic syndrome PLCE1 Nephrotic syndrome PTPRO Nephrotic syndrome SCARB2 Epilepsy [genda.com.ar]

  Burke JR, Inglis JA, Craswell PW, Mitchell KR, Emmerson BT: Juvenile nephronophthisis and medullary cystic disease, the same disease (report of a large family with medullary cystic disease associated with gout and epilepsy). [link.springer.com]

  Juvenile nephronophthisis and medullary cystic diseaseThe same disease report of a large family with medullary cystic disease associated with gout and epilepsy. Clin Nephrol 1982; 18:1-8. 9. Gardner KD Jr. [sjkdt.org]

• 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]

  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]

  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]

• Flexion Contracture

  The fetus had dysmorphic features consistent with Potter facies and flexion contractures of multiple joints. There was complete situs inversus of the thoracic and abdominal organs. [ncbi.nlm.nih.gov]

• Visual Impairment

  Of note, patients with RPGRIP1L mutations had normal retina, except two patients out of 12 with moderate visual impairment [ 34, 74 ]. [doi.org]

• Polyuria

  Clinical findings Chronic renal failure, anaemia, polyuria, polydipsia, isosthenuria and growth retardation. nephronophthisis wasting disease of the kidney substance. [medical-dictionary.thefreedictionary.com]

  Therapy with potassium chloride resulted in reduction of polyuria, increased rate of growth, and arrest of progression of renal insufficiency. [pediatrics.aappublications.org]

  A 9.5-year-old girl, whose early symptoms were polyuria and growth retardation, is described. During the progression of her disease, hyperkalaemia developed out of proportion to the degree of renal insufficiency. [ncbi.nlm.nih.gov]

• Kidney Failure

  Gov't MeSH terms Adaptor Proteins, Signal Transducing/genetics Adaptor Proteins, Signal Transducing/metabolism Humans Kidney Failure, Chronic/diagnosis Kidney Failure, Chronic/genetics Kidney Failure, Chronic/metabolism Membrane Proteins/genetics Membrane [ncbi.nlm.nih.gov]

  leading to chronic kidney disease with kidney failure. [merckmanuals.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]

  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]

  Kidney failure Spasticity Underdeveloped cerebellum Weak arms Weak legs Prevention - Nephronophthisis familial adult spastic quadriparesis Not supplied. [checkorphan.org]

• Uremia

  […] progressive symmetrical destruction of the kidneys involving both the tubules and glomeruli, characteristically resulting in anemia, polyuria, polydipsia, isosthenuria (decreased ability to concentrate the urine), progressive renal failure and death in uremia [medicinenet.com]

  ESRD): infantile: before 2 years of age juvenile (a.k.a. nephronophthisis): most common form, age of onset 10 adolescent (a.k.a. medullary cystic kidney disease): usually develops in patients in their thirties There can be clinical triad comprising of uremia [radiopaedia.org]

  These patients die from uremia at adolescence or early adulthood. [healio.com]

  […] management of renal insufficiency 495 Management of renal osteodystrophy 505 Peritoneal dialysis 516 Jonas Bergstrom M D 521 Dialysis access surgery 533 Dialyzers and water treatment 545 Dialysis ultrafiltration and hemofiltration 555 Use of drugs in uremia [books.google.com]

  The age of onset of ESRD is variable and partially dependent on the extensive genetic heterogeneity, but in most cases uremia develops within the first two decades of life. [sjkdt.org]

• Nocturnal Enuresis

  enuresis 819 Chapter 55 Operations for the weak bladder outlet 841 current and future techniques 871 Chapter 57 Urinary diversion 911 Chapter 58 The Malone antegrade continence enema MACE 947 Chapter 59 Minimally invasive approaches to lower urinary [books.google.com]

• 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]

• 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]

  Cerebellar ataxia (Joubert's syndrome). Liver fibrosis. Differential diagnosis Polycystic kidney disease Chronic pyelonephritis Urinary tract obstruction Investigations Hyponatraemia may occur if sodium intake is reduced for any reason. [patient.info]

Genetic analysis is highly indicated in order to identify causative mutations, assist with further syndromatic workup and help with prognosis. [renalandurologynews.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]

Always seek professional medical advice about any treatment or change in treatment plans. Kidney transplant Resources - Nephronophthisis familial adult spastic quadriparesis Not supplied. [checkorphan.org]

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]

Thorough review of the clinical phenotypes, their presentations, treatment, potential complications of, and prognosis is discussed. [books.google.com]

(Outcomes/Resolutions) The prognosis of Adolescent Nephronophthisis is typically guarded. [dovemed.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]

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]

Prognosis - Nephronophthisis familial adult spastic quadriparesis Not supplied. [checkorphan.org]

Its etiology is suggested to be multifactorial, consisting of genetic susceptibility and unknown exogenous factors. We present two siblings with NPH and ulcerative colitis. [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]

[…] 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]

[…] 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]

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]

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]

"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]

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]

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]

Anemia Excessive urination Excessive thirst Causes - Nephronophthisis familial adult spastic quadriparesis Abnormal kidney development Anemia Excessive thirst Excessive urination Kidney failure Spasticity Underdeveloped cerebellum Weak arms Weak legs Prevention [checkorphan.org]