Journal of Medical Cases, ISSN 1923-4155 print, 1923-4163 online, Open Access
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Case Report

Volume 16, Number 5, May 2025, pages 164-173


Nephronophthisis and Retinitis Pigmentosa (Senior-Loken Syndrome) After Living-Donor Kidney Transplantation: Twelve-Year Follow-Up in a Young Woman

Figures

↓  Figure 1. Kidney biopsy at the age of 15 years. Two microscopic photographs (a, b) with color-faded Masson trichrome staining, showing diffuse interstitial fibrosis with lymphocytic infiltration, and renal tubular atrophy with irregular dilation. Scale bar = 100 µm.
Figure 1.
↓  Figure 2. Computed tomography scans. Atrophic kidneys on both sides in coronal (arrows, a) and axial (arrows, b) images at the age of 18 years before kidney transplantation. Further atrophied kidneys (arrows, c) and kidney transplant in the normal dimension (arrow, d) at 19 years old, 8 months after kidney transplantation.
Figure 2.
↓  Figure 3. Kidney biopsy at surgery (a), 4 weeks (b) and 14 months (c) after transplantation. Note one glomerulus with global sclerosis (arrow, a) and interstitial fibrosis with lymphocytic infiltration. Also note more advanced interstitial fibrosis with lymphocytic infiltration at 14 months (c). Masson trichrome stain in a and b, hematoxylin-eosin stain in c. Scale bar = 100 µm.
Figure 3.
↓  Figure 4. Posterior pole (a in right eye, b in left eye) and wide-field (c in right eye, d in left eye) fundus photographs, and horizontal section images of optical coherence tomography (e in right eye, f in left eye) at the age of 23 years, 4 years after kidney transplantation. Note mild diffuse non-pigmented retinal degeneration outside the vascular arcade of the posterior pole (a-d) and the photoreceptor ellipsoid zones preserved only in the posterior pole (between arrowheads, e and f). Visual fields by Goldmann perimetry (g in left eye, h in right eye), showing concentric constriction to the central 5° meridians in both eyes, only with peripheral-rim fields left behind.
Figure 4.
↓  Figure 5. At the age of 31 years, 12 years after kidney transplantation. Further atrophied kidneys (arrows, a) and kidney transplant in the normal dimension (arrow, b). Wide-field fundus photographs (c in right eye, d in left eye) and horizontal section images of optical coherence tomography (e in right eye, f in left eye), showing no change compared with 8 years previously (Fig. 4a-f). Note mild diffuse non-pigmented retinal degeneration outside the vascular arcade of the posterior pole (c, d) and the photoreceptor ellipsoid zones preserved only in the posterior pole (between arrowheads, e and f). Visual fields by Goldmann perimetry (g in left eye, h in right eye), showing concentric constriction to the central 5° meridians in both eyes, only with peripheral-rim fields left behind.
Figure 5.

Table

↓  Table 1. Blood Examinations at the Initial Visit and at the Latest Visit, 12 Years Later
 
Normal range At initial visit 12 years later
ALP: alkaline phosphatase; ALT: alanine aminotransferase; AST: aspartate aminotransferase; CK: creatine kinase; CRP: C-reactive protein; eGFR: estimated glomerular filtration rate; γ-GT: γ-glutamyl transferase; HDL: high-density lipoprotein; LDH: lactate dehydrogenase; LDL: low-density lipoprotein; n.d.: not determined.
Red blood cells (× 106/µL) 3.86 - 4.92 3.43 4.31
Platelets (× 103/µL) 158 - 348 240 199
White blood cells (× 103/µL) 3.30 - 8.60 7.43 10.01
  Neutrophils (%) 40.0 - 70.0 86.5 54.0
  Lymphocytes (%) 16.5 - 49.5 10.7 39.7
  Monocytes (%) 2.0 - 10.0 2.0 4.9
  Eosinophils (%) 0.0 - 8.5 0.4 1.0
  Basophils (%) 0.0 - 2.5 0.5 0.4
Hemoglobin (g/dL) 11.6 - 14.8 10.6 12.8
Hematocrit (%) 35.1 - 44.4 32.0 40.1
Total protein (g/dL) 6.6 - 8.1 7.0 6.9
Albumin (g/dL) 4.1 - 5.1 4.6 4.0
LDH (U/L) 124 - 222 228 172
ALP (U/L) 110 - 360 192 142
AST (U/L) 13 - 30 15 14
ALT (U/L) 7 - 23 7 8
γ-GT (U/L) 9 - 32 13 16
CK (U/L) 41- 153 57 52
Amylase (U/L) 44 -132 167 76
Total bilirubin (mg/dL) 0.40 - 1.50 0.57 1.13
Urea nitrogen (mg/dL) 8.0 - 20.0 51.5 14.7
Creatinine (mg/dL) 0.46 - 0.79 5.14 0.94
eGFR (mL/min/1.73 m2) 60 or greater 10.4 57.3
Uric acid (mg/dL) 2.6 - 5.5 9.0 4.8
Triglyceride (mg/dL) 30 - 117 81 150
HDL-cholesterol (mg/dL) 41 - 100 66 n.d.
LDL-cholesterol (mg/dL) 65 - 163 98 126
Postprandial blood glucose (mg/dL) < 140 113 105
CRP (mg/dL) 0.00 - 0.14 0.09 1.17
Sodium 138 - 145 142 141
Potassium 3.6 - 4.8 3.1 3.2
Chloride 101 - 108 105 104