Phenotypes for disease #00377 (SLSN (Senior-Loken syndrome (SLSN)), OMIM:266900)

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0000015172 retinal dystrophy; nephronophthisis; growth retardation - - Isolated (sporadic) - - - - - Heleen Arts 00016543
0000015173 retinal dystrophy; nephronophthisis - - Unknown - - - - - Heleen Arts 00016544
0000127983 - SLS - Familial, autosomal recessive - - - - - Dror Sharon 00155483
0000128006 - SLS - Familial, autosomal recessive - - - - - Dror Sharon 00155506
0000310185 27y: gait problems, severe pruritus since 10 days prior time of admission; medical history: bilateral cataract, torsional nystagmus, and bilateral optic nerve atrophy since 2 years of age, diagnosed as Leber congenital amaurosis by ophthalmologist; visited by endocrinologist 2 years before admission on nephrology ward due to hypofunctioning state of thyroid gland and started levothyroxine for him; at the same time had pancytopenia/bicytopenia and normal renal function; several months later: hyperfunctioning thyroid state, gait problems, sever pruritus, elevated serum urea and creatinin levels (started hemodialysis); brother: developed intestinal obstruction in postnatal period and then dilated cardiomyopathy and hypothyroidism (started with levothyroxine, death at 5y); patient well-developed, undernourished young male, stable normal blood pressure; eye examination: pale conjunctiva, bilateral blindness, torsional nystagmus; neck: asymmetric thyromegaly with nodularity and (confirmed by neck sonography); cdiac examination: normal except grade II over VI (GII/VI) systolic murmur in apex and left lower sternal border; abdominal examination: no hepatosplenomegaly; patient alert and oriented to time, place and person and had decreased deep tendon reflexes in neurological examination; skin: pale, dry and scaly; diffuse, patchy and brownish discoloration in back; laboratory analysis: pancytopenia (white blood cells: 3.2x103/ ul, hemoglobin: 7.6 g/dl, plt: 130x 103/ul), elevated serum urea and creatinine (200, 10.7 mg/dl), adequate urinary output, serum Na+ and K+: normal (Na+: 138 mEq/l, K+: 4.8 mEq/l); hypocalcemia, hypomagnesaemia and hyperphosphatemia and hyperuricemia: (Ca2+: 5 mg/dl, Alb: 5.1 g/dl, Pi: 5.9 mg/dl, Mg2+: 1.1 mEq/l, uric acid : 7.2 mg/dl); thyroid function test: elevated serum FT4 (54 pmol/l), FT3 (23 pmol/l), decreased TSH (<0.004 mIU/l); urine analysis: microscopic hematuria (red blood cells: 10-12/hpf) and proteinuria (1+): detected; renal sonography: small-sized kidneys [right kidney: 83 mm, left kidney: 84 mm (normal kidney size: 85-130 mm)] without cyst formation; brain magnetic resonance imaging: no molar tooth sign, but mild brain atrophy and small arachnoid cyst; upper gastrointestinal endoscopy: chronic gastritis; echocardiography: 1+ mitral regurgitation; direct ophthalmoscopy: bilateral cataract, pigmentary changes as bony spicule in peripheral retina (retinitis pigmentosa) with optic nerve atrophy and vascular attenuation; underwent hemodialysis and then kidney transplantation 3,5 years ago; currently, kidney allograft function acceptable with serum creatinin of 1.4 mg per dl - Senior-Loken syndrome (SLSN) Familial, autosomal recessive 27y - - - - LOVD 00418887
0000310186 consanguineous parents; only sibling left alive, two other children deceased because of a congenital heart defect (CHD) and meningitis; pregnancy and delivery: uneventful; early signs and symptoms: growth retardation (size -3DS), 12y: polyuria and polydipsia; clinical examination: normal blood pressure (110/60 mmHg), weight: 31 kg, length 145 cm; ophthalmological examination: reduced visual acuity; pulmonary examination, osteoarticular status, liver function, and psychomotor development: normal; biochemical analysis: absence of proteinuria, of microscopic hematuria and urinary tract infection; blood urea level: 9.9 mmol/L and serum creatinine at diagnosis: 151.42 umol/L, blood sodium level: abnormally low (120 mmol/L; possibility of renal involvement, confirmed by renal ultrasonography, which displayed a reduced kidney size with hyperechogenicity, loss of corticomedullary differentiation and with absence of cysts; renal biopsy: not performed because of kidney size and children's age; no extrarenal inv; retinitis pigmentosa/retinal dystrophy, oculomotor apraxia, nystagmus, ocular coloboma, posterior encephalocele, respiratory or pulmonary involvement, cerebellar vascularization aplasia/hypoplasia, hepatic fibrosis, postaxial polydactyly, skeletal dysplasia, situs inversus/cardiac - Senior-Loken syndrome Familial, autosomal recessive 13y - - - - LOVD 00418888
0000310187 pregnancy and delivery: uneventful; diagnosis: dysmorphic face (high eyebrow, anteverted nostrils), abdominal ballooning, anemia, growth retardation (-2DS), polyuria and polydipsia; weight: 25 Kg, length: 130 cm, blood pressure: normal (100/60 mmHg); urine analysis: no proteinuria, absence of microscopic hematuria and urinary tract infection; blood urea level: 8.55 mmol/L, serum creatinine at diagnosis: 138 umol/L, blood sodium level: 125 mmol/L; because of the high rate of urea, ultrasound image: a small kidney size with hyperechogenicity, no cyst; ophthalmological examination, pulmonary examination, osteoarticular status, liver function, and psychomotor development: normal; renal biopsy: not performed because of kidney size and child's age; no extrarenal involvement; retinitis pigmentosa/retinal dystrophy, oculomotor apraxia, nystagmus, ocular coloboma, posterior encephalocele, respiratory or pulmonary involvement, cerebellar vascularization aplasia/hypoplasia, hepatic fibrosis, postaxial polydaceletal dysplasia, situs inversus/cardiac - Senior-Loken syndrome Familial, autosomal recessive 06y - - - - LOVD 00418889
0000310736 visual acuity was 20/20 in both eyes; slit-lamp examination: anterior segment of both eyes normal; color fundus photographs: both eyes unremarkable, without pigmentary changes, lesions or scars in the macula or periphery; visual field: no focal defects in both eyes; full-field electroretinogram after 30 minutes of dark adaptation, scotopic and photopic flash electroretinogram:decreased rod and cone response in both eyes; amplitude of the b-wave: reduced for the rod response (0.01, 3.0, and 10.0 scotopic) without an implicit time delay; b value of the dark-adapted electroretinogram (0.01): 36 uV right eye compared with 140 uV in the control patient; electroretinogram (3.0): 120 uV right eye compared with 212 uV in the control patient; electroretinogram (10.0): 152 uV right eye compared with 217 uV in the control patient; amplitude of both a- and b-waves of the cone response: bilaterally reduced compared to the age-matched control; b value of the light-adapted electroretinogram: 50 uV right eye in the patient and 143 uV in the control patient; no remarkable changes in 30-Hz flicker in either eye. histopathological analysis of kidney (nephrectomy): H&E staining of the patient's kidney sections showed a diffuse sclerosing tubulointerstitial process with a predominance of tortuous and atrophic tubules at the corticomedullary junction; enlarged cortical cyst formation present in the corticomedullary region, higher magnification - a thickened and multilayered tubular basement membrane (TBM); transmission electron microscopy: used to determine the impact of NPHP1 mutation on human primary cilia and TBM of renal epithelial cells: revealed an irregular TBM pattern, consisting frequently of two or three membrane layers which were folded excessively, while the lining of the tubular cysts was flattened; fewer primary cilia on the apical side of the tubular epithelial cells indicating renal cilia dysfunction, disorganized cilia in renal tubular cells of NPHP1 deficient kidney - Senior-Loken syndrome (SLSN) Familial, autosomal recessive 9y - - - - LOVD 00419450
0000345712 see paper; ... Senior-Loken syndrome SLSN5 Familial, autosomal recessive - - - - - Suzanne de Bruijn 00457217
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