Pdf nephrocystin5, a ciliary iq domain protein, is. The need for a full evaluation of renal function and hearing in children with a retinal dystrophy is emphasised. Seniorloken syndrome is a rare syndrome of retinopathy and nephronophthisis which usually presents in the first two decades of life. We describe a teenager who had endstage renal failure presenting with bilateral visual impairment due to retinal dystrophy with concomitant unilateral coats disease and exudative retinal detachment. Senior loken syndrome sls is a rare renal ocular condition with autosomal recessive inheritance 1,2. Lod scores 1 were obtained at nine loci, which were then fine mapped at 1cm intervals. The eye disease may be congenital amaurosis of leber type or pigmentary retinal degeneration and electroretinogram erg helps in the diagnosis of these varieties. Nephronophthisis european journal of human genetics. While it is not fully characterized as such, yet, conorenal syndrome seems to be an uncharacterized form of ciliopathy.
Nphp medullary cystic disease includes a group of tubulo genetic kidney disorders. Seniorloken syndrome is a rare disorder characterized by the combination of two specific features. Senior loken syndrome sls is a rare syndrome that mainly affects the. Nephrocystin5, a ciliary iq domain protein, is mutated in senior loken syndrome and interacts with rpgr and calmodulin. In seniorloken syndrome slsn, nphp is associated with retinal degeneration. Nephrocystin5, a ciliary iq domain protein, is mutated in. Senior loken syndrome genetic and rare diseases information. The clinical features of this syndrome include renal involvement, ocular involvement, retinitis pigmentosa and other systemic involvement. The proband, now aged 12 years and academically very successful. Lateonset renal failure in seniorloken syndrome sciencedirect.
Senior loken syndrome coussa rg, otto ea, gee hy, arthurs p, ren h, lopez i, keser v, fu q, faingold r, khan a, schwartzentruber j, majewski j, hildebrandt f, koenekoop rk. A syndromic form of retinal dystrophy associated with nephronophthisis, vision research on deepdyve, the largest online rental service for scholarly research with thousands of academic publications available at your fingertips. Search genetic and rare diseases information center gard. We describe an 11yearold saudi girl who was diagnosed to have this syndrome. They identified a locus for slsn in the region of the nephronophthisis3 locus on chromosome 3q21q22 nphp3.
Looking for online definition of seniorloken syndrome in the medical dictionary. The association of renal and eye disorders is described in oculocerebrorenal syndrome lowe syndrome,8 oculorenalcerebellar syndrome orc syndrome or hunter jurenko syndrome,4 renal dysplasiacataractsblindness,5 senior loken syndrome,6 and alport. Mapping of gene loci for nephronophthisis type 4 and senior. Haplotype studies showed a result compatible with homozygosity by descent in all affected individuals, covering the whole nphp3 region. A collection of disease information resources and questions answered by our. Therefore, nphp was considered to have been affected by the homozygous deletion of nphp1.
We describe two patients who presented with a combination of renal and ocular symptoms. Mutations in the cep290 gene can also cause joubert syndrome 5. In 2002, a 2monthold male infant was assessed by the general paediatric and paediatric ophthalmic services for roving eye movements and abnormal responses to visual cues. Sls causes a cystic kidney disease called nephronophthisis, which usually begins in early childhood. Pdf on jul 1, 2001, h tanaka and others published seniorloken syndrome associated with mental retardation and. Senior loken syndrome is a rare disorder characterized by the combination of two specific features. Seniorloken syndrome is a congenital eye disorder, first characterized in 1961. These cysts impair kidney function, initially causing increased urine production polyuria, excessive. Seniorloken syndrome is a rare hereditary disease that combines a disorder resembling familial juvenile. Senior loken syndrome a ciliopathy europe pmc article. Fundus examination pointing to the diagnosis of senior. The senior fitness test summary rikli and jones developed the senior fitness test for adults aged over 60 years. Senior loken syndrome serkal syndrome sesame syndrome sickle beta thalassemia.
I think the thing with senior loken is that all of the patients with it, seem to have very variable symptoms and issues and senior loken syndrome is almost like an umbrella name for the ciliapathy syndromes. Infantile, juvenile or adolescent and presents in isolation 85% or as part of a syndrome e. The characteristics of kidney disease and genotypephenotype correlations have not been evaluated in a large cohort at a single center. Introduction senior loken syndrome is a rare disease that combines familial juvenile nephronophthisis with retinitis pigmentosa. Oralfacialdigital syndromes ofds represent a heterogeneous group of rare developmental disorders affecting the mouth, the face and the digits. Seniorloken syndrome familial renalretinal dystrophy and coats disease joel s. Senior loken syndrome sls is a rare syndrome that mainly affects the kidneys and eyes. The disease progresses inexorably to chronic renal failure.
Fundus examination pointing to the diagnosis of seniorloken. Seniorloken syndrome familial renalretinal dystrophy. Pdf to text batch convert multiple files software please purchase personal license. A syndrome of immune complex glomerulonephritis and. Trp369, confirming autosomal recessive inheritance and the diagnosis of senior loken syndrome. Affected individuals invariably progress to esrf, usually before the age of 20 years. Clinicopathologic features of hepatic involvement in. Senior loken syndrome represents less than 1% of all infantileonset retinal dystrophy cases. For a phenotypic description and a discussion of genetic heterogeneity of senior loken syndrome, see 266900. Nphp is the cause of 1520% esrd in children and adolescents.
The dbgen complete panel allows analyzing 346 genes and 66 intronic regions that contain mutations that cause retinal dystrophies and the most frequent macular dystrophies, and also other ophthalmological diseases. Background and objectives joubert syndrome is a genetically heterogeneous ciliopathy associated with 30 genes. We present an 11yearold girl with senior loken syndrome, a rare familial syndrome of retinopathy and nephronophthisis. It is a rare, ciliopathic, autosomal recessive disorder characterized by juvenile nephronophthis and progressive eye disease. Mais department of pathology, university of texas health, usa. Cureus exudative retinal detachment due to coats disease. Joubert syndrome and related disorders orphanet journal of. Apr, 2015 senior loken syndrome sls is a rare syndrome that mainly affects the kidneys and eyes. The main features of this disease include nephronophthisis nphp leading to endstage renal failure and earlyonset retinal degeneration.
The earliest presenting signs of the renal component are polyuria and polydipsia secondary to defective urinary concentrating ability. Currently, there is no treatment to prevent the progression of vision loss. Senior loken syndrome is a rare inherited disorder characterized by progressive kidney and eye problems. Seniorloken syndrome is a rare syndrome of retinopathy and nephronophthisis. Looking for online definition of senior loken syndrome in the medical dictionary. In 1961, senior et a1 1 and loken et al 2 described an association of tapetoretinal degeneration with familial juvenile nephronophthisis. Nephronophthisis causes fluidfilled cysts to develop in the kidneys beginning in childhood. Nephronophthisis nphp is an autosomal recessive kidney disorder characterized by chronic tubulointerstitial nephritis that progresses eventually to end. Visual prognosis is usually poor and no definite treatment is available to date.
The infantile form nphp2 gene is normally diagnosed within the first year, progressing to erf by age 2 years. Senior loken syndrome is an autosomal recessive disorder, characterized by the. The kidneys develop cysts, inflammation, and scarring, which progressively impair kidney function. Twins with seniorloken syndrome, indian journal of. Recent molecular genetics have identified mutations in several nphp genes that lead to sls. Variations in nphp5 in patients with nonsyndromic leber. Pdf seniorloken syndrome associated with mental retardation. Four of these have been previously reported in patients with senior loken syndrome f141del, r461x, h506del, and r489x and 3 are novel a111del, e346x, and r455x. Senior loken syndrome is a rare disorder that presents in the first two decades of life. Symptoms of nephronophthisis may include increased production of urine, excessive thirst, weakness, and. Nephronophthisis nphp is an autosomal recessive kidney disorder characterized by chronic tubulointerstitial nephritis that progresses eventually to endstage kidney disease eskd. Seniorloken syndrome is a rare autosomal recessive disease with a prevalence of 1. The onset of nephronophthisis usually occurs within the first year of life or early childhood.
Seniorloken syndrome definition of seniorloken syndrome. It commonly manifests with nephronophthisis and retinal dystrophy. Here is a case of twins with seniorloken syndrome emphasizing the importance of ophthalmic examination in children with renal failure, for determining a correct. Pdf senior loken syndrome refers to a disorder in which there is a combination of nephronophthisis and retinal dystrophy. If you have problems viewing pdf files, download the latest version of adobe reader. Joubert syndrome and related disorders orphanet journal. Many patients with such a nphp1 gene mutation also have a deletion of the mall gene. To identify a new locus for nphp, we here report on totalgenome linkage analysis in seven families with nphp, in whom we had excluded linkage to all three known nphp loci. The clinical features of this syndrome include renal involvement, ocular. We report on four patients, from three different families, with seniorloken syndrome sls.
Seniorloken syndrome secondary to nphp5iqcb1 mutation in. If you have problems viewing pdf files, download the latest version of adobe. Mutational analysis was performed on a worldwide cohort of 75 families with slsn, 99 families with jbts and 21 families with isolated nephronophthisis. Lateonset renal failure in seniorloken syndrome american.
One of these deleterious diseases is seniorloken syndrome, a hereditary heterogeneous multiorgan disorder, which. Of note, mutations of rpgrip1l detected in individuals with cors significantly decreased the binding between rpgrip1l and nephrocystin4, potentially contributing to the pathogenesis of the. Since then, this association of diseases has been given a number of. Pinpointing clinical diagnosis through whole exome. Additional signs may involve brain, kidneys and other organs thus better defining the different clinical subtypes.
Download pdf 351k download meta ris compatible with endnote, reference manager, procite, refworks. Seniorloken syndrome familial renalretinal dystrophy and. Mutations of nphp4 cause lateonset retinitis pigmentosa in addition to nephronophthisis, an association described as seniorloken syndrome 20,21. Seniorloken syndrome secondary to nphp5iqcb1 mutation in an. There is a tremendously broad spectrum of signs and symptoms. A case of senior loken syndrome with gene deletions of. The incidence of nephronophthisis has been estimated to be 1 in 50,000 births. One of these deleterious diseases is senior loken syndrome, a hereditary heterogeneous multiorgan. Senior loken syndrome nord national organization for. Association with tapetoretinal degeneration occurs in approximately 18% of all cases of nephronophthisis. Senior loken syndrome is a rare syndrome of retinopathy and nephronophthisis. Senior loken syndrome familial renalretinal dystrophy and coats disease joel s. The patient recently visited the eye clinic with his son because he wanted to understand the risk to other family members. While it is not fully characterized as such, yet, conorenal syndrome seems to.
Late onset of renal disease in nephronophthisis with. Joubert syndrome and related cerebellar disorders jsrd are a group of recessive congenital ataxia conditions usually showing neonatal hypotonia, dysregulated breathing rhythms, oculomotor apraxia, and mental retardation. Nephrourology monthly seniorloken and other renalretinal. Senior loken syndrome is a rare hereditary disease that combines a disorder resembling familial juvenile. My daughter doesnt exactly fit the syndrome, but she doesnt exactly fit anything else either. Cureus exudative retinal detachment due to coats disease in. Background rare autosomal recessive disorders of variable severity are segregating in many highly consanguineous families from the arab population. Joubert syndrome js and related disorders jsrd are a group of developmental delaymultiple congenital anomalies syndromes in which the obligatory hallmark is the molar tooth sign mts, a complex midbrainhindbrain malformation visible on brain imaging, first recognized in js. Kidney and urinary diseases genetic and rare diseases. Pinpointing clinical diagnosis through whole exome sequencing.
Mutations in the nphp4 gene can also cause nephronophthisis4. Senior loken, joubert, jeune or meckelgruber syndrome. Seniorloken syndrome in a saudi child alfadhel m, alamir a. Sls is an autosomalrecessive disorder defined by the association of nephronophthisis and retinal dystrophy. For language access assistance, contact the ncats public information officer. The pathognomonic finding in jsrd is the unique molar tooth sign mts on brain imaging. Nov 01, 2006 senior loken syndrome is a rare entity that combines familial juvenile nephronophthisis with retinal dystrophy. For nephronophthisis nphp, the primary genetic cause of chronic renal failure in young adults, three loci have been mapped.
Recently, mutations in nphp6cep290 were identified as a new cause of jbts. Mutation analysis of nphp6cep290 in patients with joubert. A case of senior loken syndrome with gene deletions of nphp1mall. All 9 patients had severe visual loss from early childhood but none had overt renal disease in the first decade of life. The most commonly associated syndrome is retinal dystrophy and retinal degeneration leading to blindness senior loken syndrome.
Mutations in sdccag8 can also result in bardetbiedl syndrome 16 bbs16. Complete panel of retinal dystrophies and other eye diseases. Senior loken syndrome nord national organization for rare. Update on oralfacialdigital syndromes ofds cilia full. Clinical exome sequencing was performed, and 2 heterozygous ift140 gene mutations were detected, p. Prospective evaluation of kidney disease in joubert syndrome. For a phenotypic description and a discussion of genetic heterogeneity of seniorloken syndrome, see 266900. Nephrocystin5, a ciliary iq domain protein, is mutated in senior loken syndrome and interacts with rpgr and calmodulin skip to main content thank you for visiting. Seniorloken syndrome refers to a disorder in which there is a combination of nephronophthisis and retinal dystrophy. Click on the link to view a sample search on this topic. The senior loken syndrome sls is an autosomalrecessive disorder defined by the association of nephronophthisis and tapetoretinal degeneration.
The retinopathy in seniorloken syndrome, on the basis of retinal appearance and electrophysiology, has been reported as severe, leading to blindness. Aim to increase the understanding of the long term results in pseudoretinoblastoma eyes with infantile coats syndrome. They were unusual in that they reached endstage renal failure esrf only during the fifth or sixth decade. In addition, the patient had ocular manifestations, and was thus diagnosed to have senior loken syndrome. Senior loken syndrome sls is a rare genetic disorder having juvenile nephronophthisis and retinal degeneration progressing to blindness and end stage renal disease. These associations can occur in senior loken syndrome, but the age of the patients, the delayed onset of renal failure, nystagmus, cerebellar disorders, and the presence of evoked visual potentials with impairment of vision and no blindness, make this diagnosis less likely. No concerns were raised about the childs general health, but visual electrophysiology showed widespread photoreceptor cell dysfunction and retinal examination showed midperipheral fine pigment mottling and attenuation of. Estimates of the incidence of jsrd range between 180,000 and 1100,000 live births, although these. Senior loken syndrome is a rare entity that combines familial juvenile nephronophthisis with retinal dystrophy. Seniorloken syndrome associated with mental retardation and microcephaly. Nphp is often a part of a multisystem disorder such as senior loken syndrome, joubert syndrome, senior boichis syndrome, saldinomainzer syndrome, coach syndrome, arima syndrome, alstrom syndrome, rhyns syndrome. Case reports of two siblings and association with sensorineural deafness. With the exception of ofd types i and viii, which are xlinked, the majority of ofds is transmitted as an autosomal recessive syndrome.
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